Transitioning From Nusinersen to Risdiplam for Spinal Muscular Atrophy in Clinical Practice: A Single-Center Experience.

Background: Nusinersen and risdiplam are U.S. Food and Drug Administration (FDA)-approved treatments for spinal muscular atrophy (SMA).

Irregularly regulated collecting markets: antiquities, fossils, and wildlife.

This paper examines the dynamics of 'irregularly regulated markets', specifically those dealing with what we term 'criminogenic collectables': antiquities, fossils, and wildlife. Through the lens of 'irregular regulation' we consider how inconsistencies and loopholes in legal frameworks contribute to criminal activities in these markets. We outline five ways that such markets can be considered irregular: socially, jurisdictionally, temporally, culturally and discursively.

Short-Term High Light Stress Analysis Through Differential Methylation Identifies Root Architecture and Cell Size Responses.

DNA methylation repatterning is an epigenomic component of plant stress response, but the extent that methylome data can elucidate changes in plant growth following stress onset is not known. We applied high-resolution DNA methylation analysis to decode plant responses to short- and long-term high light stress and, integrating with gene expression data, attempted to predict components of plant growth response. We identified 105 differentially methylated genes (DMGs) following 1 h of high light treatment and 193 DMGs following 1 week of intermittent high light treatment.

Clinical predictors of treatment response to gabapentin in women with unexplained chronic pelvic pain.

Introduction: Chronic pelvic pain affects up to 24% of women worldwide and for up to 55% of these there is no associated pathology. Despite this there are no established treatments in this cohort. This is a secondary analysis of a randomised-controlled trial (GaPP2) to explore if there are measures which enable us to predict treatment outcome.

Range-wide post- and pre-breeding migratory networks of a declining neotropical-nearctic migratory bird, the blackpoll warbler.

Identifying the drivers of population declines in migratory species requires an understanding of how individuals are distributed between periods of the annual cycle. We built post- (fall) and pre-breeding (spring) migratory networks for the blackpoll warbler (Setophaga striata), a Neotropical-Nearctic songbird, using tracking data from 47 light-level geolocators deployed at 11 sites across its breeding range. During pre-breeding migration, two stopover nodes (regions) on the U.

Primary gallbladder neuroendocrine neoplasm: A case report of grade 1 well-differentiated neuroendocrine tumor.

Introduction: Neuroendocrine neoplasm (NENs) make up approximately 2-3 % of gallbladder malignancies, while only 0.5 % of all NENs develop in the gallbladder. Most Gallbladder neuroendocrine neoplasms (GB-NENs) are discovered incidentally during pathological examinations post-cholecystectomy.

Persistent species relationships characterize migrating bird communities across stopover sites and seasons.

Global migrations of diverse animal species often converge along the same routes, bringing together seasonal assemblages of animals that may compete, prey on each other, and share information or pathogens. These interspecific interactions, when energetic demands are high and the time to complete journeys is short, may influence survival, migratory success, stopover ecology, and migratory routes. Numerous accounts suggest that interspecific co-migrations are globally distributed in aerial, aquatic, and terrestrial systems, although the study of migration to date has rarely investigated species interactions among migrating animals.

Future Hospital Commission, 10 years on - Lessons learned and next steps: The Chief Registrar Programme - what has been achieved?

The Royal College of Physicians (RCP) Chief Registrar Programme (CRP) emerged from the RCP Future Hospital Commission Report (2013) and aimed to address development of clinical leadership and quality improvement to maintain high standards of patient safety and experience. The 2016 pilot created a new senior leadership role recruiting doctors in training committed to quality improvement and leadership development to champion delivering change in trusts, supported by a year-long bespoke development programme designed and delivered by the RCP. Following validation of the pilot's impact, the CRP has evolved to become a 'flagship' programme for the RCP with increasing penetrance across the UK to maximise impact for chief registrars to lead and deliver quality improvement in trusts.

Surface properties of the seas of Titan as revealed by Cassini mission bistatic radar experiments.

Saturn's moon Titan was explored by the Cassini spacecraft from 2004 to 2017. While Cassini revealed a lot about this Earth-like world, its radar observations could only provide limited information about Titan's liquid hydrocarbons seas Kraken, Ligeia and Punga Mare. Here, we show the results of the analysis of the Cassini mission bistatic radar experiments data of Titan's polar seas.

Fever of unknown origin: A 12-year case series in Colombia.

Background: Fever of unknown origin (FUO) is a diagnostic challenge with highly heterogeneous causes. Its etiology can change according to the studied regions, and the chance of reaching a diagnosis depends on available resources. The aim of this study is to describe the clinical characteristics, etiology and the usefulness of diagnostic aids in cases of FUO managed over 12 years in a Colombian reference center.

Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.

TANGO2 deficiency disorder (TDD) is a rare, autosomal recessive condition caused by pathogenic variants in TANGO2, a gene residing within the region commonly deleted in 22q11.2 deletion syndrome (22q11.2DS).

Infrared spectra and fragmentation dynamics of isotopologue-selective mixed-ligand complexes.

Isolated mixed-ligand complexes provide tractable model systems in which to study competitive and cooperative binding effects as well as controlled energy flow. Here, we report spectroscopic and isotopologue-selective infrared photofragmentation dynamics of mixed gas-phase Au(CO)(NO) complexes. The rich infrared action spectra, which are reproduced well using simulations of calculated lowest energy structures, clarify previous ambiguities in the assignment of vibrational bands, especially accidental coincidence of CO and NO bands.

Impact of freshwater rearing history on Atlantic salmon gill response to viral stimulation post seawater transfer.

Land-based recirculating aquaculture systems (RAS) have risen in prevalence in recent years for Atlantic salmon production, enabling intensive production which allows increased growth and environmental control, but also having the potential for reducing water use and eutrophication. The Atlantic salmon has an anadromous life history with juvenile stages in freshwater (FW) and on-growing in seawater (SW), enabled by a transformational process known as smoltification. The timing of smoltification and transfer of smolts from FW to SW is critical under commercial production with high mortalities during this period.

Bed rest impairs the vestibular control of balance.

Prolonged bed rest impairs standing balance but the underlying mechanisms are uncertain. Previous research suggests strength loss is not the cause, leaving impaired sensorimotor control as an alternative. Here we examine vestibular control of posture in 18 male volunteers before and after 60 days of bed rest.