Advanced Large-Scale Nanofabrication Route for Ultrasensitive SERS Platforms Based on Precisely Shaped Gold Nanostructures.

One of the key issues for SERS-based trace applications is engineering structurally uniform substrates with ultrasensitivity, stability, and good reproducibility. A label-free, cost-effective, and reproducible fabrication strategy of ultrasensitive SERS sensors was reported in this work. Herein, we present recent progress in self-assembly-based synthesis to elaborate precisely shaped and abundant gold nanoparticles in a large area. We demonstrated that shape control is driven by the selective adsorption of a cation (Na+, K+, and H+) on a single facet of gold nanocrystal seeds during the growth process. We studied SERS features as a function of morphology. Importantly, we found a correlation between the shape and experimental SERS enhancement factors. We observed a detection threshold of 10-20 M of bipyridine ethylene (BPE), which matches the lowest value determined in literature for BPE until now. Such novel sensing finding could be very promising for diseases and pathogen detection and opens up an avenue toward predicting which other morphologies could offer improved sensitivity.

Primary Retention of Molars and RANKL Signaling Alteration during Craniofacial Growth.

The primary retention of molars observed in clinic corresponds to a still-unexplained absence of molar eruption despite the presence of an eruption pathway, resembling the experimental transient inhibition of RANKL signaling in mice. The aim of the present study was to confront the hypothesis according to which the primary retention of molars is associated with transitory perturbations to RANKL signaling during growth as part of a wider craniofacial skeleton pattern. The experimental strategy was based on combining a clinical study and an animal study corresponding to the characterization of the craniofacial phenotypes of patients with primary retention of molars and analyses in mice of the consequences of transient inhibition of RANKL signaling on molar eruption and craniofacial growth. The clinical study validated the existence of a particular craniofacial phenotype in patients with primary retention of molars: a retromandibular skeletal class II typology with reduced mandibular dimensions which manifests itself at the dental level by a class II/2 with palatoversion of the upper incisors and anterior overbite. The animal study demonstrated that transient invalidation of RANKL signaling had an impact on the molar eruption process, the severity of which was dependent on the period of inhibition and was associated with a reduction in two craniofacial morphometric parameters: total skull length and craniofacial vault length. In conclusion, primary retention of molars may be proposed as part of the craniofacial skeleton phenotype associated with a transitory alteration in RANKL signaling during growth.

Precise control of the size and gap between gold nanocubes by surface-based synthesis for high SERS performance.

The optical properties of a monolayer of nanocomposite film (PMMA/gold nanocubes) were provided by fitting a proposed theoretical model to spectroscopic ellipsometry (SE) measurements. For such a thin film, these features cannot be successfully determined by means of experimental and conventional effective medium theory such as Maxwell-Garnett or Bruggeman. To make it possible, we developed a model of two classical Lorentz oscillators; one for a PMMA layer and the other for GNCs, revealing one homogeneous layer and rapid analysis without the need for large computational resources. Additionally, we tailored both the size and number of GNCs in the PMMA layer by tuning the synthesis parameters as seen in scanning electron microscopy (SEM) images. In parallel, SE measurements clearly highlighted the change in the optical properties of GNCs as a function of their density on the substrate and dimensions. Our findings demonstrate that SE is an alternative method to characterize layered GNCs on opaque substrates efficiently, which has potential implications for designing other morphologies in the future.

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.

Recessive mutations in the alsin gene cause three clinically distinct motor neuron diseases: juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis (JPLS) and infantile-onset ascending hereditary spastic paraplegia (IAHSP). A total of 23 different ALS2 mutations have been described for the three disorders so far. Most of these mutations result in a frameshift leading to a premature truncation of the alsin protein. We report the novel ALS2 truncating mutation c.2761C>T; p.R921X detected by homozygosity mapping and sequencing in two infants affected by IAHSP with bulbar involvement. The mutation c.2761C>T resides in the pleckstrin domain, a characteristic segment of guanine nucleotide exchange factors of the Rho GTPase family, which is involved in the overall neuronal development or maintenance. This study highlights the importance of using homozygosity mapping combined with candidate gene analysis to identify the underlying genetic defect as in this Saudi consanguineous family.