Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).

Late-onset Pompe disease (LOPD) includes patients from 1 year of age to adulthood. The vast heterogeneity in clinical manifestations and disease progression is not fully explained; however, a short disease duration and a young age seem to be good predictors of a better response to treatment. For this purpose, we investigated and followed up a cohort of 13 juvenile patients with LOPD from the clinical and therapeutic point of view, mainly pointing out the transition from presymptomatic to symptomatic status.

Technical aspects of neuraxial analgesia during labor and maternity care: an updated overview.

Labor analgesia is increasingly widespread throughout the world with a rate ranging from 10 to 60%. The benefits regarding clinical and non-clinical maternal-fetal outcomes are currently discussed in international scientific literature. Even stage of labor needs a different and appropriate approach to control the pain; however, different techniques are reported in literature.

CompositIA: an open-source automated quantification tool for body composition scores from thoraco-abdominal CT scans.

Background: Body composition scores allow for quantifying the volume and physical properties of specific tissues. However, their manual calculation is time-consuming and prone to human error. This study aims to develop and validate CompositIA, an automated, open-source pipeline for quantifying body composition scores from thoraco-abdominal computed tomography (CT) scans.

The hype around ctDNA guiding an informed perioperative therapeutic strategy in early-stage non-small cell lung cancer.

Non-small cell lung cancer (NSCLC) remains a dire disease being the first cause of cancer death among both genders. Early-stage NSCLC often has better treatment outcomes despite it being a highly heterogeneous disease. So far, the neo-adjuvant chemotherapy strategies have led to a small benefit with an improvement of 5% in overall survival as an absolute benefit.

Feasibility of generating sagittal radiographs from coronal views using GAN-based deep learning framework in adolescent idiopathic scoliosis.

Background: Minimizing radiation exposure is crucial in monitoring adolescent idiopathic scoliosis (AIS). Generative adversarial networks (GANs) have emerged as valuable tools being able to generate high-quality synthetic images. This study explores the use of GANs to generate synthetic sagittal radiographs from coronal views in AIS patients.

Haemodynamic profiling: when AI tells us what we already know.

Machine learning (ML) algorithms hold significant potential for extracting valuable clinical information from big data, surpassing the processing capabilities of the human brain. However, it would be naïve to believe that ML algorithms can consistently transform data into actionable insights. Clinical studies suggest that in some instances, they tell clinicians what they already know or can plainly see.

The natural history of cytologically low-risk indeterminate thyroid nodules.

Background: Thyroid nodules classified cytologically as low-risk indeterminate lesions (TIR3A) on fine-needle aspiration biopsy (FNAB) present a clinical challenge due to their uncertain malignancy risk. This single-center study aimed to evaluate the natural history of TIR3A nodules.

Materials And Methods: FNABs performed between July 2017 and December 2019 were retrospectively retrieved and patients with TIR3A nodules were evaluated at baseline and throughout a follow-up based on ultrasound (US) parameters and clinical data.

Fatuamide A, a Hybrid PKS/NRPS Metallophore from a sp. Marine Cyanobacterium Collected in American Samoa.

A structurally novel metabolite, fatuamide A (), was discovered from a laboratory cultured strain of the marine cyanobacterium sp., collected from Faga'itua Bay, American Samoa. A bioassay-guided approach using NCI-H460 human lung cancer cells directed the isolation of fatuamide A, which was obtained from the most cytotoxic fraction.

SAMURAI: shallow analysis of copy number alterations using a reproducible and integrated bioinformatics pipeline.

Shallow whole-genome sequencing (sWGS) offers a cost-effective approach to detect copy number alterations (CNAs). However, there remains a gap for a standardized workflow specifically designed for sWGS analysis. To address this need, in this work we present SAMURAI, a bioinformatics pipeline specifically designed for analyzing CNAs from sWGS data in a standardized and reproducible manner.

Recalibrating Protection Factors Using Millisecond Hydrogen/Deuterium Exchange Mass Spectrometry.

Hydrogen/deuterium exchange mass spectrometry (HDX-MS) is a powerful technique to interrogate protein structure and dynamics. With the ability to study almost any protein without a size limit, including intrinsically disordered ones, HDX-MS has shown fast growing importance as a complement to structural elucidation techniques. Current experiments compare two or more related conditions (sequences, interaction partners, excipients, conformational states, etc.

European ILD registry algorithm for self-assessment in interstitial lung diseases (eurILDreg ASA-ILD).

Background And Aims: Predicting progression and prognosis in Interstitial Lung Diseases (ILD), especially Idiopathic Pulmonary Fibrosis (IPF) and Progressive Pulmonary Fibrosis (PPF), remains a challenge. Integrating patient-centered measurements is essential for earlier and safer detection of disease progression. Home monitoring through e-health technologies, such as spirometry and oximetry connected to smartphone applications, holds promise for early detection of ILD progression or acute exacerbations, enabling timely therapeutic interventions.

Health risk assessment and Sobol' sensitivity analysis of power plant air pollution (SO2 and NOX): the effect of power plant fuel change.

This study aimed to evaluate the concentrations of sulfur dioxide (SO2) and nitrogen oxides (NOX) around the Qom (a province in Iran) combined cycle power plant in relation to seasonal variations and fuel type from December 2014 to May 2015. Passive sampling was used in three monitoring sites around the power plant to assess noncarcinogenic health risks associated with exposure to SO2 and NOX. Results showed the higher concentrations of NOX and SO2 in winter than in spring.

Replication-Poison Treatment in BRCA1-Deficient Breast Cancer Causes MRE11 Over-Resection that Induces Single-Stranded DNA Accumulation and Mitotic Catastrophe.

BRCA1 deficiency is observed in approximately 25% of triple-negative breast cancer (TNBC). BRCA1, a key player of homologous recombination (HR) repair, is also involved in stalled DNA replication fork protection and repair. Here, we investigated the sensitivity of BRCA1-deficient TNBC models to the frequently used replication chain terminator gemcitabine, which does not directly induce DNA breaks.

Evaporating Primordial Black Holes, the String Axiverse, and Hot Dark Radiation.

The search for primordial black holes (PBHs) with masses M≪M_{⊙} is motivated by natural early-Universe production mechanisms and that PBHs can be dark matter. For M≲10^{14}  kg, the PBH density is constrained by null searches for their expected Hawking emission (HE), the characteristics of which are, however, sensitive to new states beyond the standard model. If there exists a large number of spin-0 particles in nature, PBHs can, through HE, develop and maintain non-negligible spins, modifying the visible HE.

Accurate Standard Siren Cosmology with Joint Gravitational-Wave and γ-Ray Burst Observations.

Joint gravitational-wave and γ-ray burst (GRB) observations are among the best prospects for standard siren cosmology. However, the strong selection effect for the coincident GRB detection, which is possible only for sources with small inclination angles, induces a systematic uncertainty that is currently not accounted for. We show that this severe source of bias can be removed by inferring the a priori unknown electromagnetic detection probability directly from multimessenger data.

Precise Measurement of the e^{+}e^{-}→D_{s}^{+}D_{s}^{-} Cross Section at Center-of-Mass Energies from Threshold to 4.95 GeV.

Using the e^{+}e^{-} collision data collected with the BESIII detector operating at the BEPCII collider, at center-of-mass energies from the threshold to 4.95 GeV, we present precise measurements of the cross section for the process e^{+}e^{-}→D_{s}^{+}D_{s}^{-} using a single-tag method. The resulting cross section line shape exhibits several new structures, thereby offering an input for a future coupled-channel analysis and model tests, which are critical to understand vector charmonium-like states with masses between 4 and 5 GeV.

Simultaneous Unbinned Differential Cross-Section Measurement of Twenty-Four Z+jets Kinematic Observables with the ATLAS Detector.

Z boson events at the Large Hadron Collider can be selected with high purity and are sensitive to a diverse range of QCD phenomena. As a result, these events are often used to probe the nature of the strong force, improve Monte Carlo event generators, and search for deviations from standard model predictions. All previous measurements of Z boson production characterize the event properties using a small number of observables and present the results as differential cross sections in predetermined bins.

Measurement of Λ_{b}^{0}, Λ_{c}^{+}, and Λ Decay Parameters Using Λ_{b}^{0}→Λ_{c}^{+}h^{-} Decays.

A comprehensive study of the angular distributions in the bottom-baryon decays Λ_{b}^{0}→Λ_{c}^{+}h^{-}(h=π,K), followed by Λ_{c}^{+}→Λh^{+} with Λ→pπ^{-} or Λ_{c}^{+}→pK_{S}^{0} decays, is performed using a data sample of proton-proton collisions corresponding to an integrated luminosity of 9  fb^{-1} collected by the LHCb experiment at center-of-mass energies of 7, 8, and 13 TeV. The decay parameters and the associated charge-parity (CP) asymmetries are measured, with no significant CP violation observed. For the first time, the Λ_{b}^{0}→Λ_{c}^{+}h^{-} decay parameters are measured.

Racial and Ethnic Disparities in Pediatric Counseling on Nutrition, Lifestyle, and Weight: A Secondary Analysis of the BP-CATCH Randomized Clinical Trial.

Importance: Pediatric obesity and hypertension are highly correlated. To mitigate both conditions, provision of counseling on nutrition, lifestyle, and weight to children with high blood pressure (BP) measurements is recommended.

Objective: To examine racial and ethnic disparities in receipt of nutrition, lifestyle, and weight counseling among patients with high BP at pediatric primary care visits stratified by patients' weight status.

A comparative analysis of risk stratification tools in systemic sclerosis-associated pulmonary arterial hypertension: a EUSTAR analysis.

Objectives: The 2022 European Society of Cardiology and European Respiratory Society (ESC/ERS) Guidelines for pulmonary arterial hypertension (PAH) recommend risk stratification to optimize management. However, the performance of generic PAH risk stratification tools in patients with systemic sclerosis (SSc)-associated PAH remains unclear. Our objective was to identify the most accurate approach for risk stratification at SSc-PAH diagnosis.