The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports

Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes. The aim of the study was to review the current literature on this topic and to present the characteristics of craniofacial and cervicovertebral morphology and subsequent anomalies in three patients with Crouzon syndrome, Treacher Collins syndrome and cleidocranial dysplasia. Materials and Methods: A comprehensive electronic search was performed using PubMed via Medline, Web of Science and SCOPUS.A manual search involved references form articles retrieved for possible inclusion. There were no restrictions as to date of publication, study design or language. The search, evaluation of relevant articles, and their critical appraisal were performed by two independent judges. Discrepancies between reviewers were resolved through a consensus with a third party. Case reports: Additionally, this paper presents a radiographic analysis of craniofacial and cervicovertebral morphology in patients with cleidocranial dysplasia, Crouzon, and Treacher Collins syndromes. The most characteristic findings of cervicovertebral morphology were the presence of cervical spine fusions in all three patients. The intervertebral fusions in patients with Crouzon and TreacherCollins syndromes have been characterized with "block vertebrae". Cervicovertebral complex of the patient with cleidocranialdysplasia is characterized by delayed mineralization of vertebral bodies (C1–C7). Results: Although craniofacial and cervicovertebral anomalies in presented syndromes have different phenotype expression, the vast majority of cases are caused by mutations in specific, syndrome-related genes (FGFR2, FGFR3, RUNX2, TCOF1, POLR1C,POLR1D). Craniofacial anomalies, that include changes in development of hard and soft tissues, were considered as traditional concomitant of presented syndromes. Apart from these changes, cervicovertebral region could also be affected. Recent reports show different changes in vertebral structure (delayed mineralization) and unphysiological relations (cervical spine fusions). Conclusion: The limitation of cervical range of motion resulting from these anomalies may have clinical significance on multidisciplinary management approach in these patients. Recent progress in dentistry resulted in better diagnostic and therapeutic options and outcomes for individuals with genetic syndromes

Resonant Raman study of local vibrational modes in AlGaAsN layers

We report on resonant inelastic light scattering in dilute AlGaAsN films. Intense narrow peaks associated to N-related local vibration modes (LVM) have been observed around 325, 385, 400, 450, 500 and 540 cm−1. Their frequencies are compared to density functional theory supercell calculations of AlnGa4−nN complexes (n=1−4). We find clear indications of the formation of Al4N complexes. The values of the extended phonon frequencies reveal changes in the N distribution depending on the growth conditions. The LVM spectra are resonant in the energy range from 1.75 to 1.79 eV, which corresponds to an N-related electronic transition. Our results confirm the preferential bonding of N to Al in AlGaAsN

Insights into platinum-induced peripheral neuropathy-current perspective

Cancer is a global health problem that is often successfully addressed by therapy, with cancer survivors increasing in numbers and living longer world around. Although new cancer treatment options are continuously explored, platinum based chemotherapy agents remain in use due to their efficiency and availability. Unfortunately, all cancer therapies affect normal tissues as well as cancer, and more than 40 specific side effects of platinum based drugs documented so far decrease the quality of life of cancer survivors. Chemotherapy-induced peripheral neuropathy is a frequent side effects of platinum-based chemotherapy agents. This cluster of complications is often so debilitating that patients occasionally have to discontinue the therapy. Sensory neurons of dorsal root ganglia are at the core of chemotherapy-induced peripheral neuropathy symptoms. In these postmitotic cells, DNA damage caused by platinum chemotherapy interferes with normal functioning. Accumulation of DNA-platinum adducts correlates with neurotoxic severity and development of sensation of pain. While biochemistry of DNA-platinum adducts is the same in all cell types, molecular mechanisms affected by DNA-platinum adducts are different in cancer cells and non-dividing cells. This review aims to raise awareness about platinum associated chemotherapy-induced peripheral neuropathy as a medical problem that has remained unexplained for decades. We emphasize the complexity of this condition both from clinical and mechanistical point of view and focus on recent findings about chemotherapy-induced peripheral neuropathy in in vitro and in vivo model systems. Finally, we summarize current perspectives about clinical approaches for chemotherapy-induced peripheral neuropathy treatment

wild birds in Serbia during 2012: first isolation and characterisation of WNV strains from Serbia

Monitoring West Nile virus (WNV) infection i

Bichromatic dressing of a quantum dot detected by a remote second quantum dot

We demonstrate an information transfer mechanism between two dissimilar remote InAs/GaAs quantum dots weakly coupled to a common photonic crystal microcavity. Bichromatic excitation in the s state of one of the dots leads to the formation of dressed states due to the coherent coupling to the laser field, in resonance with the quantum dot. Information on the resulting dressed structure is read out through the photoluminescence spectrum of the other quantum dot, as well as the cavity mode. The effect is also observed upon exchange of the excitation and detection quantum dots. This quantum dot intertalk is interpreted in terms of a cavity-mediated coupling involving acoustic phonons. A master equation for a three-level system coherently pumped by the two lasers quantitatively describes the behavior of our system. Our result presents an important step towards scalable solid-state quantum networking based on coupled multi-quantum-dot-cavity systems, without the need to use identical quantum emittersThis work was supported by the Spanish MINECO under Contract No. MAT2011-22997, by CAM under Contract No. S2009/ESP-1503, and by the FP7 ITN Spin-optronics (237252). C.S-M. and E.C. acknowledge FPI gran

Neuroprotective Role of Selected Antioxidant Agents in Preventing Cisplatin-Induced Damage of Human Neurons In Vitro

Chemotherapy-induced peripheral neuropathy (CIPN) is a side effect of platinum-based chemotherapy and decreases the quality of life of cancer patients. We compared neuroprotective properties of several agents using an in vitro model of terminally differentiated human cells NT2-N derived from cell line NT2/D1. Sodium azide and an active metabolite of amifostine (WR1065) increase cell viability in simultaneous treatment with cisplatin. In addition, WR1065 protects the non-dividing neurons by decreasing cisplatin caused oxidative stress and apoptosis. Accumulation of Pt in cisplatin-treated cells was heterogeneous, but the frequency and concentration of Pt in cells were lowered in the presence of WR1065 as shown by X-ray fluorescence microscopy (XFM). Transition metals accumulation accompanied Pt increase in cells; this effect was equally diminished in the presence of WR1065. To analyze possible chemical modulation of Pt-DNA bonds, we examined the platinum L-III near edge spectrum by X-ray absorption spectroscopy. The spectrum found in cisplatin-DNA samples is altered differently by the addition of either WR1065 or sodium azide. Importantly, a similar change in Pt edge spectra was noted in cells treated with cisplatin and WR1065. Therefore, amifostine should be reconsidered as a candidate for treatments that reduce or prevent CIPN

Raman scattering by longitudinal optical phonons in InN nanocolumns grown on Si(111) and Si(001) substrates

Raman measurements in high-quality InN nanocolumns and thin films grown on both Si(1 1 1) and Si(1 0 0) substrates display a low-energy coupled LO phonon–plasmon mode together with uncoupled longitudinal optical (LO) phonons. The coupled mode is attributed to the spontaneous accumulation of electrons on the lateral surfaces of the nanocolumns, while the uncoupled ones originates from the inner part of the nanocolumns. The LO mode in the columnar samples appears close to the E1(LO) frequency. This indicates that most of the incident light is entering through the lateral surfaces of the nanocolumns, resulting in pure longitudinal–optical mode with quasi-E1 symmetry. For increasing growth temperature, the electron density decreases as the growth rate increases. The present results indicate that electron accumulation layers do not only form on polar surfaces of InN, but also occur on non-polar ones. According to recent calculations, we attribute the electron surface accumulation to the temperature dependent In-rich surface reconstruction on the nanocolumns sidewalls

A study on wear failure analysis of tungsten carbide hardfacing on carbon steel blade in a digester tank

This paper addresses wear failure analysis of tungsten carbide (WC) hardfacing on a carbon steel blade known as the continuous digester blade (CD blade). The CD blade was placed in a digester tank to mix ilmenite ore with sulphuric acid as part of a production process. Tungsten carbide hardfacing was applied on the CD blade to improve its wear resistance while the CD blade was exposed to an abrasive and acidic environment. Failure analysis was car-ried out on the hardfaced CD blade in order to improve its wear resistance and lifetime. A thickness and hardness comparison study was conducted on worn and unworn specimens from the CD blades. The carbide distribution along with elemental composition analysis of the hardfaced CD blade specimens was examined using scanning electron microscopy and energy-dispersive spectroscopy. The investigation revealed that an inconsistent hardfacing thickness was welded around the CD blade. Minimum coating thickness was found at the edges of the blade surfaces causing failure to the blades as the bare carbon steel blades were exposed to the mixed environment. The wear resistance of the CD blade can be improved by distributing the carbide uniformly on the hardfaced coating. Applying extra coating coverage at the critical edge will prevent the exposure of bare carbon steel blade, thus increasing the CD blade lifetime

Features and frequency of use of electronic health records in primary care across 20 countries:a cross-sectional study

Objectives: Variation exists in the capabilities of electronic healthcare records (EHRs) systems and the frequency of their use by primary care physicians (PCPs) from different settings. We aimed to examine the factors associated with everyday EHRs use by PCPs, characterise the EHRs features available to PCPs, and to identify the impact of practice settings on feature availability. Study design: Cross-sectional study. Methods: PCPs from 20 countries completed cross-sectional online survey between June and September 2020. Responses which reported frequency of EHRs use were retained. Associations between everyday EHRs use and PCP and practice factors (country, urbanicity, and digital maturity) were explored using multivariable logistic regression analyses. The effect of practice factors on the variation in availability of ten EHRs features was estimated using Cramer's V. Results: Responses from 1520 out of 1605 PCPs surveyed (94·7%) were retained. Everyday EHRs use was reported by 91·2% of PCPs. Everyday EHRs use was associated with PCPs working &gt;28 h per week, having more years of experience using EHRs, country of employment, and higher digital maturity. EHRs features concerning entering, and retrieving data were available to most PCPs. Few PCPs reported having access to tools for ‘interactive patient education’ (37·3%) or ‘home monitoring and self-testing of chronic conditions’ (34·3%). Country of practice was associated with availability of all EHRs features (Cramer's V range: 0·2–0·6), particularly with availability of tools enabling patient EHRs access (Cramer's V: 0·6, P &lt; 0.0001). Greater feature availability of EHRs features was observed with greater digital maturity. Conclusions: EHRs features intended for patient use were uncommon across countries and levels of digital maturity. Systems-level research is necessary to identify the country-specific barriers impeding the implementation of EHRs features in primary care, particularly of EHRs features enabling patient interaction with EHRs, to develop strategies to improve systems-wide EHRs use.</p