Transmantle pressure under the influence of free breathing: non-invasive quantification of the aqueduct pressure gradient in healthy adults.

Background: The pressure gradient between the ventricles and the subarachnoid space (transmantle pressure) is crucial for understanding CSF circulation and the pathogenesis of certain neurodegenerative diseases. This pressure can be approximated by the pressure difference across the aqueduct (ΔP). Currently, no dedicated platform exists for quantifying ΔP, and no research has been conducted on the impact of breathing on ΔP.

Healthcare utilization and costs for patients with Parkinson's disease in Taiwan.

Background: Parkinson's disease (PD) exerts a considerable burden on the elderly. Studies on long-term costs for Parkinson's disease patients in Taiwan are not available.

Objectives: This study aims to examine the medical resource utilization and medical costs including drug costs for PD patients in Taiwan over up to 15 years of follow-up.

Through-tunnel reconstruction with Ligament Augmentation and Reconstruction System (LARS) for managing post-arthroplasty patellofemoral instability.

Background: Despite advancements in prosthetic designs and surgical techniques, patellar dislocation remains a rare but significant complication following total knee arthroplasty, with an incidence ranging between 0.15% and 0.5%.

Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.

Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.

Acute administration of NLX-101, a Serotonin 1A receptor agonist, improves auditory temporal processing during development in a mouse model of Fragile X Syndrome.

Background: Fragile X syndrome (FXS) is a leading known genetic cause of intellectual disability and autism spectrum disorders (ASD)-associated behaviors. A consistent and debilitating phenotype of FXS is auditory hypersensitivity that may lead to delayed language and high anxiety. Consistent with findings in FXS human studies, the mouse model of FXS, the Fmr1 knock out (KO) mouse, shows auditory hypersensitivity and temporal processing deficits.

Four-electron reduction of benzene by a samarium(II)-alkyl without the addition of external reducing agents.

Benzene reduction by molecular complexes remains an important synthetic challenge, requiring harsh reaction conditions involving group I metals. Reductions of benzene, to date, typically result in a loss of aromaticity, although the benzene tetra-anion, a 10π-electron system, has been calculated to be stable and aromatic. Due to the lack of sufficiently potent reductants, four-electron reduction of benzene usually requires the use of group I metals.

Magnetic resonance imaging of hepatocellular carcinoma: a spectrum of uncommon morphologic subtypes, unusual imaging patterns and mimics.

Advances in imaging techniques have evolved, allowing for early noninvasive diagnosis and improved management of high-risk patients with hepatocellular carcinoma (HCC). The hallmark imaging features of HCC on multiphasic cross-sectional imaging can be explained by the multistep process of hepatocarcinogenesis and is seen in 60% of cases. However, approximately 40% of cases do not abide by the classic imaging appearance and may pose a diagnostic challenge for radiologists.

Establishing bio-logging data collections as dynamic archives of animal life on Earth.

Rapid growth in bio-logging-the use of animal-borne electronic tags to document the movements, behaviour, physiology and environments of wildlife-offers opportunities to mitigate biodiversity threats and expand digital natural history archives. Here we present a vision to achieve such benefits by accounting for the heterogeneity inherent to bio-logging data and the concerns of those who collect and use them. First, we can enable data integration through standard vocabularies, transfer protocols and aggregation protocols, and drive their wide adoption.

Exposure to childhood maltreatment is associated with specific epigenetic patterns in sperm.

Childhood maltreatment exposure (CME) increases the risk of adverse long-term health consequences for the exposed individual. Animal studies suggest that CME may also influence the health and behaviour in the next generation offspring through CME-driven epigenetic changes in the germ line. Here we investigated the associated between early life stress on the epigenome of sperm in humans with history of CME.

Interfacial water confers transcription factors with dinucleotide specificity.

Transcription factors (TFs) recognize specific bases within their DNA-binding motifs, with each base contributing nearly independently to total binding energy. However, the energetic contributions of particular dinucleotides can deviate strongly from the additive approximation, indicating that some TFs can specifically recognize DNA dinucleotides. Here we solved high-resolution (<1 Å) structures of MYF5 and BARHL2 bound to DNAs containing sets of dinucleotides that have different affinities to the proteins.

ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip.

Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).

Structures of Saccharolobus solfataricus initiation complexes with leaderless mRNAs highlight archaeal features and eukaryotic proximity.

The archaeal ribosome is of the eukaryotic type. TACK and Asgard superphyla, the closest relatives of eukaryotes, have ribosomes containing eukaryotic ribosomal proteins not found in other archaea, eS25, eS26 and eS30. Here, we investigate the case of Saccharolobus solfataricus, a TACK crenarchaeon, using mainly leaderless mRNAs.

Genomic and phenotypic stability of fusion-driven pediatric sarcoma cell lines.

Human cancer cell lines are the mainstay of cancer research. Recent reports showed that highly mutated adult carcinoma cell lines (mainly HeLa and MCF-7) present striking diversity across laboratories and that long-term continuous culturing results in genomic/transcriptomic heterogeneity with strong phenotypical implications. Here, we hypothesize that oligomutated pediatric sarcoma cell lines mainly driven by a fusion transcription factor, such as Ewing sarcoma (EwS), are genetically and phenotypically more stable than the previously investigated adult carcinoma cell lines.

Machine learning based prediction model for bile leak following hepatectomy for liver cancer.

Objective: We sought to develop a machine learning (ML) preoperative model to predict bile leak following hepatectomy for primary and secondary liver cancer.

Methods: An eXtreme Gradient Boosting (XGBoost) model was developed to predict post-hepatectomy bile leak using data from the ACS-NSQIP database. The model was externally validated using data from hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (ICC) multi-institutional databases.

Convergent procedure for long-standing persistent atrial fibrillation in heart failure with reduced ejection fraction.

Background: Catheter ablation for atrial fibrillation in patients with heart failure with reduced ejection fraction is associated with a significant reduction in morbimortality. The convergent procedure is a valid ablation option for the treatment of long-standing persistent atrial fibrillation.

Aim: To describe the outcomes of patients with heart failure with reduced ejection fraction and long-standing persistent atrial fibrillation who underwent the convergent procedure.

Behind the scenes of EQA - characteristics, capabilities, benefits and assets of external quality assessment (EQA).

This is the first in a series of five papers that detail the role and substantial impact that external quality assessment (EQA) and their providers' services play in ensuring diagnostic (IVD) performance quality. The aim is to give readers and users of EQA services an insight into the processes in EQA, explain to them what happens before EQA samples are delivered and after examination results are submitted to the provider, how they are assessed, what benefits participants can expect, but also who are stakeholders other than participants and what significance do EQA data and assessment results have for them. This first paper presents the history of EQA, insights into legal, financing and ethical matters, information technology used in EQA, structure and lifecycle of EQA programs, frequency and intensity of challenges, and unique requirements of extra-examination and educational EQA programs.

Transvenous embolization of brain arteriovenous malformations featuring multiple draining veins with 4D-DSA: a case series and technical insights.

Background: Hemorrhage is a major complication of brain arteriovenous malformations (AVMs) embolization, which can be related to persistent arteriovenous shunts that were not completely occluded during the embolization. In transvenous embolization (TVE) this risk is deemed higher for AVMs larger than 3 cm featuring multiple veins of drainage. Herein, we will discuss a few selected cases where brain AVMs with more than one draining vein were deemed safe for curative embolization with advanced endovascular techniques after a careful anatomical study through the four dimensional-digital subtraction angiography (4D-DSA) imaging.

Behind the scenes of EQA - characteristics, capabilities, benefits and assets of external quality assessment (EQA).

External quality assessment (EQA) enhances patient safety through the evaluation of the quality of laboratory-based and point of care testing. Regulatory agencies and accreditation organizations utilize the results and the laboratory's response to them as part of assessing the laboratory's fitness to practice. In addition, where EQA samples are commutable and the assigned value has been determined using reference measurement procedures (RMPs), EQA data contributes to the verification of metrological traceability of assays as part of the post-market surveillance of diagnostic (IVD) medical devices (IVD-MDs).

The Effectiveness of Video Animations as a Tool to Improve Health Information Recall for Patients: Systematic Review.

Background: Access to clear and comprehensible health information is crucial for patient empowerment, leading to improved self-care, adherence to treatment plans, and overall health outcomes. Traditional methods of information delivery, such as written documents and oral communication, often result in poor memorization and comprehension. Recent innovations, such as animation videos, have shown promise in enhancing patient understanding, but comprehensive investigations into their effectiveness across various health care settings are lacking.

Applying AI to Structured Real-World Data for Pharmacovigilance Purposes: Scoping Review.

Background: Artificial intelligence (AI) applied to real-world data (RWD; eg, electronic health care records) has been identified as a potentially promising technical paradigm for the pharmacovigilance field. There are several instances of AI approaches applied to RWD; however, most studies focus on unstructured RWD (conducting natural language processing on various data sources, eg, clinical notes, social media, and blogs). Hence, it is essential to investigate how AI is currently applied to structured RWD in pharmacovigilance and how new approaches could enrich the existing methodology.

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.

Validation and safety of AmbuLatory care for transient ischemic attack from emergency department (VALID study).

Background: Transient Ischemic Attacks (TIAs) are a common reason for Emergency Department (ED) visits and represent a significant public health issue. Patients experiencing TIAs often face significant delays in undergoing various tests due to ED overcrowding and limited availability of neurologists. Emergency physicians (EPs) and neurologists have identified several criteria for allowing outpatient management.

Describing quality of life trajectories in young Hispanic women with breast cancer: 5-year results from a large prospective cohort.

Introduction: Cancer treatments have a detrimental impact on the quality of life (QoL) of young women with breast cancer (YWBC). Research exploring QoL trajectories has been mostly centered on postmenopausal women. Here we report longitudinal changes across all QoL domains and associated factors in YWBC.

Scabiosa artropurperea var.maritima aqueous extracts improve in vivo fertility parameters and in vitro granulosa cell steroidogenesis in Ewe.

Scabiosa artropurperea, a member of the Dipsacaceae family and Scabiosa genus, is renowned for its medicinal properties. In the present study, we investigated the impact of Scabiosa artropurperea aqueous extract (AES) on the in vivo reproductive functions in Queue Fine de l'Ouest ewes, and on in vitro ovine granulosa cells. Ewes were synchronized for 14 days with intra-vagina progesterone (P4) devices (FGA, 20 mg) and divided into four groups receiving daily oral doses of 0, 1, 2, and 4 mg of AES/kg Live Body Weight (LBW), respectively.

Soil quality under rotational and conventional grazing in Mediterranean areas at desertification risk.

Rotational grazing (RG) could be a valid alternative to continuous grazing (CG) in Mediterranean extensive pastures to fight land degradation. This study aimed to compare soil quality under RG and CG management, in paired RG-CG Portuguese pasture areas under strong aridity stress, with RG sites converted from CG management in 2018. Soils were sampled in 2022, at 10 cm depth, over 71 ha of RG and 37 ha of CG pastures, subdivided in 16 and 10 sampling plots, respectively.