Bringing one-dimensional photonic crystals to a new light: an electrophotonic platform for chemical mass transport visualisation and cell monitoring

Photonic sensor technologies represent an important milestone in monitoring complex physical, chemical and biological systems. We present an integrated chemo- and bio-photonic sensing scheme drawing on the integration of one-dimensional (1D) stimuli-responsive photonic crystals (PCs) with an electrophotonic visualisation platform. We demonstrate various modi operandi, including the real-time mapping of spatial concentration distribution of a chemical analyte and the in situ monitoring of adhesive cell cultures, enabled by the modular combination of stimuli-responsive 1D PCs with various light emitters and detectors

Novel TRIM32 mutation in sarcotubular myopathy

Tripartite motif-containing protein 32 (TRIM32) is a member of the TRIM ubiquitin E3 ligases which ubiquitinates different substrates in muscle including sarcomeric proteins. Mutations in TRIM32 are associated with Limb-Girdle Muscular Dystrophy 2H. In a 66 old woman with disto-proximal myopathy, we identified a novel homozygous mutation of TRIM32 gene c.1781G > A (p. Ser594Asn) localised in the c-terminus NHL domain. Mutations of this domain have been also associated to Sarcotubular Myopathy (STM), a form of distal myopathy with peculiar features in muscle biopsy, now considered in the spectrum of LGMD2H. Muscle biopsy revealed severe abnormalities of the myofibrillar network with core like areas, lobulated fibres, whorled fibres and multiple vacuoles. Desmin and Myotilin stainings also pointed to accumulation as in Myofibrillar Myopathy. This report further confirms that STM and LGMD2H represent the same disorder and suggests to consider TRIM32 mutations in the genetic diagnosis of Sarcotubular Myopathy and Myofibrillar Myopathy

Distal motor neuropathy associated with novel EMILIN1 mutation

Abstract Elastin microfibril interface-located proteins (EMILINs) are extracellular matrix glycoproteins implicated in elastogenesis and cell proliferation. Recently, a missense mutation in the EMILIN1 gene has been associated with autosomal dominant connective tissue disorder and motor-sensory neuropathy in a single family. We identified by whole exome sequencing a novel heterozygous EMILIN1 mutation c.748C>T [p.R250C] located in the coiled coil forming region of the protein, in four affected members of an autosomal dominant family presenting a distal motor neuropathy phenotype. In affected patient a sensory nerve biopsy showed slight and unspecific changes in the number and morphology of myelinated fibers. Immunofluorescence study of a motor nerve within a muscle biopsy documented the presence of EMILIN-1 in nerve structures. Skin section and skin derived fibroblasts displayed a reduced extracellular deposition of EMILIN-1 protein with a disorganized network of poorly ramified fibers in comparison with controls. Downregulation of emilin1a in zebrafish displayed developmental delay, locomotion defects, and abnormal axonal arborization from spinal cord motor neurons. The phenotype was complemented by wild-type zebrafish emilin1a, and partially the human wild-type EMILIN1 cRNA, but not by the cRNA harboring the novel c.748C>T [p.R250C]. These data suggest a role of EMILIN-1 in the pathogenesis of diseases affecting the peripheral nervous system

Clinical and molecular consequences of exon 78 deletion in DMD gene

We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked reduction of dystrophin expression leading to genetic analysis of DMD gene by MLPA, which detected a single deletion of exon 78. To the best of our knowledge, DMD exon 78 deletion has never been described in literature and, according to prediction, it should lead to loss of reading frame in the dystrophin gene. To further assess the actual effect of exon 78 deletion, we analysed cDNA from muscle mRNA. This analysis confirmed the absence of 32 bp of exon 78. Exclusion of exon 78 changes the open reading frame of exon 79 and generate a downstream stop codon, producing a dystrophin protein of 3703 amino acids instead of 3685 amino acids. Albeit loss of reading frame usually leads to protein degradation and severe phenotype, in this case, we demonstrated that deletion of DMD exon 78 can be associated with a functional protein able to bind DGC complex and a very mild phenotype. This study adds a novel deletion in DMD gene in human and helps to define the compliance between maintaining/disrupting the reading frame and clinical form of the disease

Predicting limit-setting behavior of gamblers using machine learning algorithms: a real-world study of Norwegian gamblers using account data

Player protection and harm minimization have become increasingly important in the gambling industry along with the promotion of responsible gambling (RG). Among the most widespread RG tools that gaming operators provide are limit-setting tools that help players limit the amount of time and/or money they spend gambling. Research suggests that limit-setting significantly reduces the amount of money that players spend. If limit-setting is to be encouraged as a way of facilitating responsible gambling, it is important to know what variables are important in getting individuals to set and change limits in the first place. In the present study, 33 variables assessing the player behavior among Norsk Tipping clientele (N = 70,789) from January to March 2017 were computed. The 33 variables which reflect the players’ behavior were then used to predict the likelihood of gamblers changing their monetary limit between April and June 2017. The 70,789 players were randomly split into a training dataset of 56,532 and an evaluation set of 14,157 players (corresponding to an 80/20 split). The results demonstrated that it is possible to predict future limit-setting based on player behavior. The random forest algorithm appeared to predict limit-changing behavior much better than the other algorithms. However, on the independent test data, the random forest algorithm’s accuracy dropped significantly. The best performance on the test data along with a small decrease in accuracy in comparison to the training data was delivered by the gradient boost machine learning algorithm. The most important variables predicting future limit-setting using the gradient boost machine algorithm were players receiving feedback that they had reached 80% of their personal monthly global loss limit, personal monthly loss limit, the amount bet, theoretical loss, and whether the players had increased their limits in the past. With the help of predictive analytics, players with a high likelihood of changing their limits can be proactively approached

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation

In the last few years, whole exome sequencing (WES) allowed the identification of PRUNE mutations in patients featuring a complex neurological phenotype characterized by severe neurodevelopmental delay, microcephaly, epilepsy, optic atrophy, and brain or cerebellar atrophy. We describe an additional patient with homozygous PRUNE mutation who presented with spinal muscular atrophy phenotype, in addition to the already known brain developmental disorder. This novel feature expands the clinical consequences of PRUNE mutations and allow to converge PRUNE syndrome with previous descriptions of neurodevelopmental/neurodegenerative disorders linked to altered microtubule dynamics