Dissipation characteristics of quantized spin waves in nano-scaled magnetic ring structures

The spatial profiles and the dissipation characteristics of spin-wave quasi-eigenmodes are investigated in small magnetic Ni$_{81}$Fe$_{19}$ ring structures using Brillouin light scattering microscopy. It is found, that the decay constant of a mode decreases with increasing mode frequency. Indications for a contribution of three-magnon processes to the dissipation of higher-order spin-wave quasi-eigenmodes are found

A rare case of arterial avulsion presenting with occult blood loss following total hip arthroplasty: a case report

INTRODUCTION: Iatrogenic arterial damage during total hip replacement is a rare but potentially life- or limb-threatening complication. To the best of our knowledge, this is the first reported case of an avulsion injury to a posterior branch of the profunda femoral artery during primary hip arthroplasty. CASE PRESENTATION: We describe the case of a 55-year-old Caucasian man who underwent a total hip replacement. The patient's hemoglobin levels dropped postoperatively, but there was no obvious bleeding, hemodynamic instability, pulsatile mass, or limb ischemia. The patient's hemoglobin levels continued to drop despite nine units of transfused blood. Three days after surgery, the patient underwent an angiography that showed an avulsion injury to a posterior branch of the profunda femoral artery. The avulsion was ligated and the hematoma was evacuated. CONCLUSION: Vascular damage may present in many ways including obvious bleeding, haemodynamic instability, a pulsatile mass, limb ischemia, and occult blood loss. Any of these signs in isolation or in combination could represent a vascular injury and an urgent angiogram should be considered

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. This phenotype was first described in 1996 by Verloes et al. as an autosomal recessive form of brachyolmia associated with AI. Whole-exome sequencing resulted in the identification of recessive hypomorphic mutations including deletion, nonsense and splice mutations, in the LTBP3 gene, which is involved in the TGF-beta signaling pathway. We further investigated gene expression during mouse development and tooth formation. Differentiated ameloblasts synthesizing enamel matrix proteins and odontoblasts expressed the gene. Study of an available knockout mouse model showed that the mutant mice displayed very thin to absent enamel in both incisors and molars, hereby recapitulating the AI phenotype in the human disorder

Right drug, right patient, right time: aspiration or future promise for biologics in rheumatoid arthritis?

Individualising biologic disease-modifying anti-rheumatic drugs (bDMARDs) to maximise outcomes and deliver safe and cost-effective care is a key goal in the management of rheumatoid arthritis (RA). Investigation to identify predictive tools of bDMARD response is a highly active and prolific area of research. In addition to clinical phenotyping, cellular and molecular characterisation of synovial tissue and blood in patients with RA, using different technologies, can facilitate predictive testing. This narrative review will summarise the literature for the available bDMARD classes and focus on where progress has been made. We will also look ahead and consider the increasing use of ‘omics’ technologies, the potential they hold as well as the challenges, and what is needed in the future to fully realise our ambition of personalised bDMARD treatment

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

BACKGROUND: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. METHODS: We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. RESULTS: We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. CONCLUSIONS: We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. TRIAL REGISTRATION NUMBERS: NCT01746121 and NCT02397824.journal articleresearch support, non-u.s. gov't2016 Feb2015 10 26importe