Possible role of SCN4A skeletal muscle mutation in apnoea during seizure

SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea. We have recently identified similar SCN4A mutations in association with sudden infant death syndrome. Laryngospasm has also been proposed as a contributory mechanism to some cases of sudden unexpected death in epilepsy (SUDEP). We report an infant with EEG‐confirmed seizures and recurrent apneas. Whole‐exome sequencing identified a known pathogenic mutation in the SCN4A gene that has been reported in several unrelated families with myotonic disorder. We propose that the SCN4A mutation contributed to the apneas in our case, irrespective of the underlying cause of the epilepsy. We suggest this supports the notion that laryngospasm may contribute to some cases of SUDEP, and implicates a possible shared mechanism between a proportion of sudden infant deaths and sudden unexpected deaths in epilepsy

Redating the formation of Lake Bafa, western Turkey: Integrative geoarchaeological methods and new environmental and dating evidence

The ancient Gulf of Latmos is an iconic example of a dynamic landscape and humankind's historical relationship with it. Using extensive new primary data and original models for calibrating radiocarbon dates in transitional lagoon environments, we demonstrate that Lake Bafa (or Bafa Gölü, in Turkish) formed at a much earlier date than previously thought. In questioning the logical process by which previous dates were achieved, we re‐examine the relationship between sedimentological data, archaeology and written history. We reassert the need to establish independently dated environmental data sets as the foundation of regional studies as distinct from archaeological and historical interpretive processes. We conclude that Lake Bafa slowly transitioned to become an isolated lagoon sometime between the end of the second millennium B.C. and end of the first millennium B.C.; becoming a fully closed brackish lake during the second millennium A.D. This marks a major shift in our understanding of the nature of human occupation and activity here during the last four millennia but also in the way we date ancient lagoons and integrate historical and environmental data in general

Incidence, distribution and limited genetic variability among Turkish isolates of Grapevine Pinot gris virus from different grapevine cultivars

Grapevine Pinot gris virus (GPGV) was firstly identified in northern Italy by deep sequencing from grapevine cv. Pinot gris, exhibiting mottling and deformation of the leaves. The objective of this study was to investigate the prevalence and genetic variability of GPGV isolates obtained from different local and imported grapevine cultivars in Turkey based on partial coat protein, movement protein and RNA-dependent RNA polymerase (RdRp) domain of the replicase (Rep) gene. Two hundred and one grapevine samples from different provinces were tested by RT-PCR assays, approximately 25% of which were found to be infected by GPGV. The PCR products were sequenced and based on the phylogenetic analysis, RdRp gene was found to be most conserved region. The phylograms of three genomic regions revealed correlation between geography and genetic structure. Furthermore, nucleotide diversity studies revealed a low divergence from the homologous sequences from GenBank and some variations within the groups were detected. The results presented in this study provide a better understanding of genetic variation and phylogenetic of GPGV isolates worldwide. © 2018, Deutsche Phytomedizinische Gesellschaft

Formation And Organization Of Amino Terminated Self-Assembled Layers On Si(001) Surface

We have investigated the effects of dipping time, solution concentration and solvent type on the formation of self-assembled monolayers with aminosiloxane molecules (i.e.,N-(3 trimethoxysilylpropyl)diethylenetriamine (TPDA)) on the Si(001) surface. Studies performed with an ellipsometer showed that monolayers with a thickness of about 1.2 nm were formed when the dipping time is about 2 h, while multilayer were observed for longer time periods. The effect of the TPDA concentration on the thickness of the deposited layer was not very profound, however, the contact angle data exhibit importance of concentration on the surface coverage. The type of the solvent used in the formation of the monolayers was found an important parameter. Monolayers were formed with solvent having larger dielectric constants. Relatively thick multilayer was observed when benzene was used as the solvent, due to its quite low dielectric constant (hydrophobicity).PubMedWoSScopu

Effect of social isolation on the brain injury following focal cerebral ischemia in mice and proteomic approach for identifying possible cellular pathways

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