First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser).

We present the first documented case of PURA syndrome in Colombia. This rare neurological disease results from mutations in the PURA gene located on chromosome 5, leading to haploinsufficiency of the PUR-α protein. This protein is essential for early brain development and neuronal function.

Transcriptional re-programming of liver-resident iNKT cells into T-regulatory type-1-like liver iNKT cells involves extensive gene de-methylation.

Unlike conventional CD4+ T cells, which are phenotypically and functionally plastic, invariant NKT (iNKT) cells generally exist in a terminally differentiated state. Naïve CD4+ T cells can acquire alternative epigenetic states in response to different cues, but it remains unclear whether peripheral iNKT cells are epigenetically stable or malleable. Repetitive encounters of liver-resident iNKT cells (LiNKTs) with alpha-galactosylceramide (αGalCer)/CD1d-coated nanoparticles (NPs) can trigger their differentiation into a LiNKT cell subset expressing a T regulatory type 1 (TR1)-like (LiNKTR1) transcriptional signature.

Psychometric examination of the patient-reported outcome measurement information system parent proxy pediatric sleep measures from early childhood to adolescence in a nationally representative Spanish sample.

Study Objectives: To use a nationally representative sample to (1) evaluate the factor structure of the patient-reported outcome measurement information system (PROMIS) parent proxy pediatric sleep scales (Spanish translation), (2) examine the invariance of these scales across sex and across different developmental periods of childhood and adolescence, (3) confirm the information and precision of the scales using item response theory (IRT), and (4) provide age-based normative information.

Methods: Parents of a nationally representative sample of 5525 Spanish children and adolescents ages 5-16 years (56.1% boys) completed the Spanish translation parent proxy short versions of the sleep disturbance and sleep-related impairment scales.

A 1D imaging soft X-ray spectrometer for the small quantum systems instrument at the European XFEL.

A 1D imaging soft X-ray spectrometer installed on the small quantum systems (SQS) scientific instrument of the European XFEL is described. It uses movable cylindrical constant-line-spacing gratings in the Rowland configuration for energy dispersion in the vertical plane, and Wolter optics for simultaneous 1D imaging of the source in the horizontal plane. The soft X-ray fluorescence spectro-imaging capability will be exploited in pump-probe measurements and in investigations of propagation effects and other nonlinear phenomena.

Factors affecting protein recovery during Hsp40 affinity profiling.

The identification and quantification of misfolded proteins from complex mixtures is important for biological characterization and disease diagnosis, but remains a major bioanalytical challenge. We have developed Hsp40 Affinity Profiling as a bioanalytical approach to profile protein stability in response to cellular stress. In this assay, we ectopically introduce the Hsp40 DNAJB8 into cells and use quantitative proteomics to determine how protein affinity for DNAJB8 changes in the presence of cellular stress, without regard for native clients.

Clinical distinction between cognitive disengagement syndrome and ADHD presentations in a nationally representative sample of Spanish children and adolescents.

Background: This study sought to determine whether cognitive disengagement syndrome (CDS, formerly sluggish cognitive tempo) has different external correlates relative to ADHD-inattentive presentation (INP), ADHD-hyperactive/impulsive presentation (HIP), and ADHD-combined presentation (CP).

Methods: Parents of a nationally representative sample of 5,525 Spanish youth (ages: 5-16, 56.1% boys) completed measures of CDS, ADHD-inattention (IN), and ADHD-hyperactivity/impulsivity (HI) and other measures.

Cognitive Disengagement Syndrome Symptoms from Early Childhood to Adolescence in a Nationally Representative Spanish Sample.

Objective: The identification of a common set of symptoms for assessing cognitive disengagement syndrome (CDS, formerly sluggish cognitive tempo) for early childhood (ages 5-8), middle childhood (ages 9-12), and adolescence (ages 13-16) is needed to advance research on the developmental psychopathology of CDS (i.e. a common symptom set with comparable internal and external validity for each age group).

Soft Drinks and Symptoms of Depression and Anxiety in Overweight Subjects: A Longitudinal Analysis of an European Cohort.

Background: Studies about the association of carbonated/soft drinks, coffee, and tea with depression and anxiety are scarce and inconclusive and little is known about this association in European adults. Our aim was to examine the association between the consumption of these beverages and depressive and anxiety symptom severity.

Methods: A total of 941 European overweight adults (mean age, 46.

Generation of Large Vortex-Free Superfluid Helium Nanodroplets.

Superfluid helium nanodroplets are an ideal environment for the formation of metastable, self-organized dopant nanostructures. However, the presence of vortices often hinders their formation. Here, we demonstrate the generation of vortex-free helium nanodroplets and explore the size range in which they can be produced.

Preeclampsia and risk of maternal pulmonary hypertension at high altitude in Bolivia.

Women with a history of preeclampsia (PE) have a greater risk of pulmonary arterial hypertension (PAH). In turn, pregnancy at high altitude is a risk factor for PE. However, whether women who develop PE during highland pregnancy are at risk of PAH before and after birth has not been investigated.

An Epidemiological Analysis for Assessing and Evaluating COVID-19 Based on Data Analytics in Latin American Countries.

This research provides a detailed analysis of the COVID-19 spread across 14 Latin American countries. Using time-series analysis and epidemic models, we identify diverse outbreak patterns, which seem not to be influenced by geographical location or country size, suggesting the influence of other determining factors. Our study uncovers significant discrepancies between the number recorded COVID-19 cases and the real epidemiological situation, emphasizing the crucial need for accurate data handling and continuous surveillance in managing epidemics.

EMC chaperone-Ca structure reveals an ion channel assembly intermediate.

Voltage-gated ion channels (VGICs) comprise multiple structural units, the assembly of which is required for function. Structural understanding of how VGIC subunits assemble and whether chaperone proteins are required is lacking. High-voltage-activated calcium channels (Cas) are paradigmatic multisubunit VGICs whose function and trafficking are powerfully shaped by interactions between pore-forming Ca1 or Ca2 Caα (ref.

Harmonic radiation contribution and X-ray transmission at the Small Quantum Systems instrument of European XFEL.

Transmission measurements of the soft X-ray beamline to the Small Quantum Systems (SQS) scientific instrument at the SASE3 undulator of European XFEL are presented. Measurements are reported for a wide range of photon energies (650 eV to 2400 eV), using X-ray gas monitors as well as a bolometric radiometer. The results are in good agreement with simulations for the beam transport and show a transmission of up to 80% over the whole photon energy range.

Transcriptional re-programming of insulin B-chain epitope-specific T-follicular helper cells into anti-diabetogenic T-regulatory type-1 cells.

Systemic delivery of nanoparticles (NPs) coated with mono-specific autoimmune disease-relevant peptide-major histocompatibility complex class II (pMHCII) molecules can resolve organ inflammation in various disease models in a disease-specific manner without impairing normal immunity. These compounds invariably trigger the formation and systemic expansion of cognate pMHCII-specific T-regulatory type 1 (TR1) cells. By focusing on type 1 diabetes (T1D)-relevant pMHCII-NP types that display an epitope from the insulin B-chain bound to the same MHCII molecule (IA) on three different registers, we show that pMHCII-NP-induced TR1 cells invariably co-exist with cognate T-Follicular Helper (TFH)-like cells of quasi-identical clonotypic composition and are oligoclonal, yet transcriptionally homogeneous.

Social-emotional well-being and adult hearing loss: clinical recommendations.

: Best-practice in audiological rehabilitation takes a holistic client- and family-centred approach and considers hearing care in the context of personal well-being. Hearing loss not only impairs the ability to hear, but can also compromise the ability to communicate, thus negatively impacting both social and emotional well-being. Hearing care professionals play a key role in fostering their client's well-being.

The beam transport system for the Small Quantum Systems instrument at the European XFEL: optical layout and first commissioning results.

The Small Quantum Systems instrument is one of the six operating instruments of the European XFEL, dedicated to the atomic, molecular and cluster physics communities. The instrument started its user operation at the end of 2018 after a commissioning phase. The design and characterization of the beam transport system are described here.

Elevation of Pulmonary Artery Pressure in Newborns from High-Altitude Pregnancies Complicated by Preeclampsia.

We hypothesized that fetal exposure to the oxidative stress induced by the combined challenge of preeclampsia (PE) and high altitude would induce a significant impairment in the development of pulmonary circulation. We conducted a prospective study in La Paz (Bolivia, mean altitude 3625 m) in which newborns from singleton pregnancies with and without PE were compared (PE group = 69, control = 70). We conducted an echocardiographic study in these infants at the median age of two days.

Development and Evaluation of a Digital Health Intervention to Prevent Type 2 Diabetes in Primary Care: The PREDIABETEXT Study Protocol for a Randomised Clinical Trial.

Background: Type 2 diabetes mellitus (T2DM) is a highly prevalent disease associated with an increased risk of comorbidities, premature death, and health costs. Prediabetes is a stage of glucose alteration previous to T2DM, that can be reversed. The aim of the study is to develop and evaluate a low-intensity, multifaceted, digital intervention to prevent T2DM.

Investigating charge-up and fragmentation dynamics of oxygen molecules after interaction with strong X-ray free-electron laser pulses.

During the last decade, X-ray free-electron lasers (XFELs) have enabled the study of light-matter interaction under extreme conditions. Atoms which are subject to XFEL radiation are charged by a complex interplay of (several subsequent) photoionization events and electronic decay processes within a few femtoseconds. The interaction with molecules is even more intriguing, since intricate nuclear dynamics occur as the molecules start to dissociate during the charge-up process.