Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report.

Background: Due to improved treatment options, more SMA patients reach childbearing age. Currently, limited data on pregnant SMA patients is available, especially in relation to disease-modifying therapies (DMT). This case report helps to elucidate new approaches for future guidelines in the management of pregnancy and SMA.

Temporal Dynamics of Affective Scene Processing in the Healthy Adult Human Brain.

Understanding how the brain distinguishes emotional from neutral scenes is crucial for advancing brain-computer interfaces, enabling real-time emotion detection for faster, more effective responses, and improving treatments for emotional disorders like depression and anxiety. However, inconsistent research findings have arisen from differences in study settings, such as variations in the time windows, brain regions, and emotion categories examined across studies. This review sought to compile the existing literature on the timing at which the adult brain differentiates basic affective from neutral scenes in less than one second, as previous studies have consistently shown that the brain can begin recognizing emotions within just a few milliseconds.

The Theranostic Genome.

Theranostic drugs represent an emerging path to deliver on the promise of precision medicine. However, bottlenecks remain in characterizing theranostic targets, identifying theranostic lead compounds, and tailoring theranostic drugs. To overcome these bottlenecks, we present the Theranostic Genome, the part of the human genome whose expression can be utilized to combine therapeutic and diagnostic applications.

Conotoxin KM-RIIIJ reveals interplay between K1-channels and persistent sodium currents in proprioceptive DRG neurons.

Voltage-gated potassium channels (VGKCs) comprise the largest and most complex families of ion channels. Approximately 70 genes encode VGKC alpha subunits, which assemble into functional tetrameric channel complexes. These subunits can also combine to form heteromeric channels, significantly expanding the potential diversity of VGKCs.

Updated Structure of Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics.

Background And Objectives: Myotonic dystrophy type 2 (DM2) is a multisystemic repeat disorder caused by the expansion of an unstable CCTG tetranucleotide repeat in the noncoding region of the gene. Standard diagnostic is based on Southern blot analysis or a unidirectional RP-PCR that amplifies the repeat from the downstream end.

Methods: Our study reevaluated 80 patients (cohort 1) with clinical suspicion of DM2 but homozygous negative results using the standard diagnostic repeat-primed PCR (RP-PCR).