Prader-Willi syndrome: A primer for clinicians

The advent of sensitive genetic testing modalities for the diagnosis of Prader-Willi syndrome has helped to define not only the phenotypic features of the syndrome associated with the various genotypes but also to anticipate clinical and psychological problems that occur at each stage during the life span. With advances in hormone replacement therapy, particularly growth hormone children born in circumstances where therapy is available are expected to have an improved quality of life as compared to those born prior to growth hormone

How to Improve the Management of Acute Ischemic Stroke by Modern Technologies, Artificial Intelligence, and New Treatment Methods

Stroke remains one of the leading causes of death and disability in Europe. The European Stroke Action Plan (ESAP) defines four main targets for the years 2018 to 2030. The COVID-19 pandemic forced the use of innovative technologies and created pressure to improve internet networks. Moreover, 5G internet network will be helpful for the transfer and collecting of extremely big databases. Nowadays, the speed of internet connection is a limiting factor for robotic systems, which can be controlled and commanded potentially from various places in the world. Innovative technologies can be implemented for acute stroke patient management soon. Artificial intelligence (AI) and robotics are used increasingly often without the exception of medicine. Their implementation can be achieved in every level of stroke care. In this article, all steps of stroke health care processes are discussed in terms of how to improve them (including prehospital diagnosis, consultation, transfer of the patient, diagnosis, techniques of the treatment as well as rehabilitation and usage of AI). New ethical problems have also been discovered. Everything must be aligned to the concept of "time is brain"

Seasonal variation of serotonin turnover in human cerebrospinal fluid, depressive symptoms and the role of the 5-HTTLPR

Studying monoaminergic seasonality is likely to improve our understanding of neurobiological mechanisms underlying season-associated physiological and pathophysiological behavior. Studies of monoaminergic seasonality and the influence of the serotonin-transporter-linked polymorphic region (5-HTTLPR) on serotonin seasonality have yielded conflicting results, possibly due to lack of power and absence of multi-year analyses. We aimed to assess the extent of seasonal monoamine turnover and examined the possible involvement of the 5-HTTLPR. To determine the influence of seasonality on monoamine turnover, 5-hydroxyindoleacetic acid (5-HIAA) and homovanillic acid (HVA) were measured in the cerebrospinal fluid of 479 human subjects collected during a 3-year period. Cosine and non-parametric seasonal modeling were applied to both metabolites. We computed serotonin (5-HT) seasonality values and performed an association analysis with the s/l alleles of the 5-HTTLPR. Depressive symptomatology was assessed using the Beck Depression Inventory-II. Circannual variation in 5-HIAA fitted a spring-peak cosine model that was significantly associated with sampling month (P=0.0074). Season of sampling explained 5.4% (P=1.57 × 10(−7)) of the variance in 5-HIAA concentrations. The 5-HTTLPR s-allele was associated with increased 5-HIAA seasonality (standardized regression coefficient=0.12, P=0.020, N=393). 5-HIAA seasonality correlated with depressive symptoms (Spearman's rho=0.13, P=0.018, N=345). In conclusion, we highlight a dose-dependent association of the 5-HTTLPR with 5-HIAA seasonality and a positive correlation between 5-HIAA seasonality and depressive symptomatology. The presented data set the stage for follow-up in clinical populations with a role for seasonality, such as affective disorders