Diagnosis of Amyloidosis: A Survey of Current Awareness and Clinical Challenges Among Cardiologists in Switzerland.

Introduction: Transthyretin amyloidosis (ATTR) is a progressive disease in which amyloid fibril deposition disrupts tissue structure and organ function. Many patients with ATTR present with cardiac involvement; recent studies indicate that ATTR prevalence is higher than expected in patients with certain heart conditions. Although long delays to diagnosis are common, recent treatment advances have made timely diagnosis critical to ensure appropriate patient management.

The forebrain synaptic transcriptome is organized by clocks but its proteome is driven by sleep.

Neurons have adapted mechanisms to traffic RNA and protein into distant dendritic and axonal arbors. Taking a biochemical approach, we reveal that forebrain synaptic transcript accumulation shows overwhelmingly daily rhythms, with two-thirds of synaptic transcripts showing time-of-day-dependent abundance independent of oscillations in the soma. These transcripts formed two sharp temporal and functional clusters, with transcripts preceding dawn related to metabolism and translation and those anticipating dusk related to synaptic transmission.

Role of Family Planning in Women With Multiple Sclerosis in Switzerland: Results of the Women With Multiple Sclerosis Patient Survey.

Women of child bearing age with multiple sclerosis (MS) must carefully consider treatments when planning a family, since disease modifying drugs (DMDs) are contraindicated during pregnancy. This questionnaire-based study aimed to improve understanding of the effect of family planning on treatment decisions in female, Swiss MS patients. Female patients with MS (aged 18-55 years) participated in the 26-question survey between September 2014 and August 2015.

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

The NONO protein has been characterized as an important transcriptional regulator in diverse cellular contexts. Here we show that loss of NONO function is a likely cause of human intellectual disability and that NONO-deficient mice have cognitive and affective deficits. Correspondingly, we find specific defects at inhibitory synapses, where NONO regulates synaptic transcription and gephyrin scaffold structure.

A protocol for concurrent high-quality immunohistochemical and biochemical analyses in adult mouse central nervous system.

Biochemical analysis of central nervous system proteins and nucleic acids requires fresh-tissue homogenates, whereas immunohistochemistry usually is performed in sections prepared from perfusion-fixed tissue. Post-mortem immersion-fixation is possible, but largely impairs morphological preservation and protein antigenicity. Here, we present a simple, fast and versatile protocol allowing concurrent biochemical and immunohistochemical analysis, including pre-embedding immunoelectron microscopy, using tissue from the same animal.

Selection of Carbonic Anhydrase IX Inhibitors from One Million DNA-Encoded Compounds.

DNA-encoded chemical libraries, i.e., collections of compounds individually coupled to distinctive DNA fragments serving as amplifiable identification barcodes, represent a new tool for the de novo discovery of small molecule ligands to target proteins of pharmaceutical interest.