Notes

Childhood-onset dystonia-causing KMT2B versions result in a distinctive genomic hypermethylation user profile.
dback from the design reviews and usability assessments was translated into technical improvements and design enhancements that were implemented in subsequent iterations.

Sleep apnea is an underdiagnosed and undertreated condition. However, with increasing awareness, the demand for quality sleep apnea care is likely to surge, and creative alternatives are needed. The results of this study demonstrate the successful application of a framework using a design science research paradigm to design, develop, and evaluate a telemedicine platform for patients with sleep apnea and their providers.
Sleep apnea is an underdiagnosed and undertreated condition. However, with increasing awareness, the demand for quality sleep apnea care is likely to surge, and creative alternatives are needed. The results of this study demonstrate the successful application of a framework using a design science research paradigm to design, develop, and evaluate a telemedicine platform for patients with sleep apnea and their providers.
In response to the recent government restrictions, flavored JUUL products, which are rechargeable closed-system electronic cigarettes (e-cigarettes), are no longer available for sale. However, disposable closed-system products such as the flavored Puff Bar e-cigarette continues to be available. If e-cigarette consumers simply switch between products during the current government restrictions limited to 1 type of product over another, then such restrictions would be less effective. A step forward in this line of research is to understand how the public discusses these products by examining discourse referencing both Puff Bar and JUUL in the same conversation. Twitter data provide ample opportunity to capture such early trends that could be used to help public health researchers stay abreast of the rapidly changing e-cigarette marketplace.

The goal of this study was to examine public discourse referencing both Puff Bar and JUUL products in the same conversation on Twitter.

We collected data from Twitter'sevels of nicotine among younger populations.
On examining the public's conversations about Puff Bar and JUUL products on Twitter, having described themes in posts, this study aimed to help the tobacco control community stay informed about 2 popular e-cigarette products with different device features, which can be potentially substituted for one another. Future health communication campaigns may consider targeting the health consequences of using multiple e-cigarette products or dual use to reduce exposure to high levels of nicotine among younger populations.Neuromodulation therapy -vagus nerve stimulation (VNS) and deep brain stimulation (DBS)- is one of the therapeutic options for drug-resistant epilepsy. With the increasing number of DBS implantations in women with epilepsy, it has become a burning issue whether DBS is safe in pregnancy. We report here two women with epilepsy who gave birth to healthy children with DBS therapy. We describe two cases, a 30-year-old woman and a 37-year-old woman. Both were implanted with DBS due to drug-resistant epilepsy. Both of our patients showed a significant improvement after DBS implantation and thereafter gave birth to a healthy child with DBS treatment. The severity and frequency of epileptic seizures did not change during pregnancy and after childbirth. Although a Caesarean section was performed in one case, pregnancies and births were essentially problem-free. At present, the two- and four-year-old children are healthy. Considering these cases, previously described VNS cases, and DBS cases with non-epileptic indications; we suggest that pregnancy and childbirth are safe in epilepsy patients with DBS, moreover, DBS treatment has probably no effect on foetal abnormalities or breastfeeding.
We aimed to identify new candidate pathogenic genes for atypical Rolandic epilepsy.

We retrospectively evaluated the data from 24 Chinese patients with atypical Rolandic epilepsy who underwent whole-exome sequencing. Data were analysed regarding the frequency of affected genes, previously reported disease-related genes, and evaluation based on Kyoto Encyclopaedia of Genes and Genomes (KEGG).

We identified a frameshift mutation in the reported gene PRRT2, which is classified as pathogenic according to American College of Medical Genetics and Genomics guidelines (ACMG). We also identified a novel missense mutation in the PRRT2 gene in a family with three affected patients. Several other candidate genes were found in at least two patients, some of which were associated with other epilepsies (ADGRV1, CACNA1A, CHD2, CLCN2, HECW2, KIF1A, NPRL3, RELN and TSC2), while others were mainly associated with neuropsychiatric disease (SHANK3 and AUTS2). The KEGG analysis of 81 candidate genes associated with atypical Rolandic epilepsy identified a significant association with the GABAergic synapse. Candidate genes involved in the GABAergic synapse pathway included NSF, CACNA1A, as well as others.

Our study indicates that PRRT2 mutations may be associated with atypical Rolandic epilepsy. Moreover, we identified a number of unreported candidate genes, including ADGRV1, CHD2, CACNA1A, NSF, NPRL3, KIF1A, GJB2 and HECW2, also associated with atypical Rolandic epilepsy.
Our study indicates that PRRT2 mutations may be associated with atypical Rolandic epilepsy. Moreover, we identified a number of unreported candidate genes, including ADGRV1, CHD2, CACNA1A, NSF, NPRL3, KIF1A, GJB2 and HECW2, also associated with atypical Rolandic epilepsy.The management of drug-resistant patients with focal epilepsy is often challenging. Surgery is recognised as a useful and effective treatment option. The identification of the epileptogenic zone relies on the integration of clinical, neurophysiological, and neuroimaging findings. selleck chemical The role of non-invasive functional neuroimaging techniques has been reported to add diagnostic accuracy to first-line evaluations, avoiding invasive presurgical examinations in selected cases. In this view, we report the case of a 16-year-old male suffering from drug-resistant focal epilepsy with episodes rarely evolving to a bilateral tonic-clonic seizure. Conventional 1.5T and 3T MRI were considered uninformative. Based on electro-clinical data, focal cortical dysplasia was suspected. The epileptogenic zone was identified with the integration of further non-invasive functional neuroimaging techniques ([18F]-fluorodeoxyglucose positron emission tomography and arterial spin labelling), where electrical source imaging played the main role.
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