Writer’s cramp (WC) is a task-specific focal dystonia that occurs selectively in the hand and arm during writing. Previous studies have shown a role for genetics in the pathology of task-specific focal dystonia. However, to date, no causal gene has been reported for task-specific focal dystonia, including WC. In this study, we investigated the genetic background of a large Dutch family with autosomal dominant‒inherited WC that was negative for mutations in known dystonia genes. Whole exome sequencing identified 4 rare variants of unknown significance that segregated in the family. One candidate gene was selected for follow-up, Calcium Voltage-Gated Channel Subunit Alpha1 H, CACNA1H, due to its links with the known dystonia gene Potassium Channel Tetramerization Domain Containing 17, KCTD17, and with paroxysmal movement disorders. Targeted resequencing of CACNA1H in 82 WC cases identified another rare, putative damaging variant in a familial WC case that did not segregate. Using structural modelling and functional studies in vitro, we show that both the segregating p.Arg481Cys variant and the non-segregating p.Glu1881Lys variant very likely cause structural changes to the Cav3.2 protein and lead to similar gains of function, as seen in an accelerated recovery from inactivation. Both mutant channels are thus available for re-activation earlier, which may lead to an increase in intracellular calcium and increased neuronal excitability. Overall, we conclude that rare functional variants in CACNA1H need to be interpreted very carefully, and additional studies are needed to prove that the p.Arg481Cys variant is the cause of WC in the large Dutch family.

Despite established benefits, exclusive breastfeeding (EBF) rate remains poor in India. selleck products This study measured the rate of early initiation of breastfeeding and EBF up to 42 days postpartum period and the reasons associated with early interruption of it.

In this study we followed a cohort 319 mother-newborn dyads, on a scheduled day of each week for six postpartum weeks (42 postpartum days), during May 2017 – March 2019. We used standard maternal 24 h recall method to collect data on newborn feeding practices. Additionally, using content the analysis method, we analysed the data captured through open ended question on current breastfeeding practice and reasons to identify the sociocultural facilitators/barriers of exclusive breastfeeding .

Of the retained 306 newborns, early initiation of breastfeeding rate was 60% (184/306), whereas, EBF rate was 47% (143/306). Mothers’ educational level did not emerge as a risk for unsuccessful breastfeeding practices, whereas, father being not the major earner of the faor ensuring better infant feeding outcome.

Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder in children or early adolescents with an estimated worldwide prevalence of 7.2%. Numerous articles related to ADHD have been published in the literature. However, which articles had ultimate influence is still unknown, and what factors affect the number of article citations remains unclear as well. This bibliometric analysis (1) visualizes the prominent entities with 1 picture using the top 100 most-cited articles, and (2) investigates whether medical subject headings (i.e., MeSH terms) can be used in predicting article citations.

By searching the PubMed Central

(PMC) database, the top 100 most-cited abstracts relevant to ADHD since 2014 were downloaded. Citation rank analysis was performed to compare the dominant roles of article types and topic categories using the pyramid plot. Social network analysis (SNA) was performed to highlight prominent entities for providing a quick look at the study result. The authors exard to display 100 top-cited articles on ADHD. MeSH terms can be used in predicting article citations on ADHD. These visualizations of the top 100 most-cited articles could be applied to future academic pursuits and other academic disciplines.With the ongoing COVID-19 outbreak, healthcare systems across the world have been pushed to the brink. The approach of traditional healthcare systems to disaster preparedness and prevention has demonstrated intrinsic problems, such as failure to detect early the spread of the virus, public hospitals being overwhelmed, a dire shortage of personal protective equipment, and exhaustion of healthcare workers. Consequently, this situation resulted in manpower and resource costs, leading to the widespread and exponential rise of infected cases at the early stage of the epidemic. To limit the spread of infection, the Chinese government adopted innovative, specialized, and advanced systems, including empowered Fangcang and Internet hospitals, as well as high technologies such as 5G, big data analysis, cloud computing, and artificial intelligence. The efficient use of these new forces helped China win its fight against the virus. As the rampant spread of the virus continues outside China, these new forces need to be integrated into the global healthcare system to combat the disease. Global healthcare system integrated with new forces is essential not only for COVID-19 but also for unknown infections in the future.

Autism is characterised not only by impaired social cognitive ’empathising’ but also by superior rule-based ‘systemising’. These cognitive domains intertwine within the categorical diagnosis of autism, yet behavioural genetics suggest largely independent heritability, and separable brain mechanisms. We sought to determine whether quantitative behavioural measures of autistic traits are dimensionally associated with structural and functional brain network integrity, and whether brain bases of autistic traits vary independently across individuals.

Thirty right-handed neurotypical adults (12 females) were administered psychometric (Social Responsiveness Scale, Autism Spectrum Quotient and Systemising Quotient) and behavioural (Attention Network Test and theory-of-mind reaction time) measures of autistic traits, and structurally (diffusion tensor imaging) and functionally (500 s of 2 Hz eyes-closed resting fMRI) derived graph-theoretic measures of efficiency of information integration were computed throughout the brain and within subregions.