Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.

Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.

Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.

CaML: Chemistry-informed machine learning explains mutual changes between protein conformations and calcium ions in calcium-binding proteins using structural and topological features.

Proteins' flexibility is a feature in communicating changes in cell signaling instigated by binding with secondary messengers, such as calcium ions, associated with the coordination of muscle contraction, neurotransmitter release, and gene expression. When binding with the disordered parts of a protein, calcium ions must balance their charge states with the shape of calcium-binding proteins and their versatile pool of partners depending on the circumstances they transmit. Accurately determining the ionic charges of those ions is essential for understanding their role in such processes.

Defining Excellence: The First Core Set of Quality Indicators for the European Paediatric Surgical Audit on Hirschsprung's Disease Care.

Aim: This study aimed to develop a universally applicable core set of quality indicators for Hirschsprung's disease care through a consensus-driven process, to standardise and improve care quality across Europe.

Methods: A modified Delphi method was used to achieve consensus among healthcare professionals (HPs) and patient representatives (PRs) across Europe. Participants completed three rounds of anonymous surveys, rating quality indicators for Hirschsprung's disease care.

A rare intersection: squamous cell carcinoma of the tonsil and the anti-TIF1 syndrome masquerade.

Background: Dermatomyositis is a chronic inflammatory condition affecting muscles and skin, often associated with an increased risk of cancer. Specific autoantibodies, including anti-TIF1 (Transcription Intermediary Factor 1), have been linked to this risk. We present a case of dermatomyositis in a male patient positive for anti-TIF1 antibodies, subsequently diagnosed with squamous cell carcinoma of the tonsil, a novel association not previously documented.

Carbon monoxide-oxidising Pseudomonadota on volcanic deposits.

Carbon monoxide (CO) oxidising microorganisms are present in volcanic deposits throughout succession, with levels of vegetation and soil influencing the communities present. Carboxydovores are a subset of CO oxidisers that use CO as an energy source, which raises questions about the physiological and metabolic features that make them more competitive in harsh volcanic ecosystems. To address these questions, samples were taken from volcanic strata formed by eruptions from Calbuco Volcano (Chile) in 2015 (tephra) and 1917 (soil).

Clinical relevance of macromolecular complexes involving integrins, potassium and sodium ion channels and the sodium/proton antiporter in human breast cancer.

Background: Mounting evidence underline the relevance of macromolecular complexes in cancer. Integrins frequently recruit ion channels and transporters within complexes which behave as signaling hubs. A complex composed by β1 integrin, hERG1 K channel, the neonatal form of the Na channel Na 1.

Changes in the treatment and outcomes of different severities of neonatal hypoxic ischemic encephalopathy in California: a retrospective cohort study.

Objective: Evaluate the changes in management and outcomes of Californian infants with hypoxic ischemic encephalopathy (HIE).

Study Design: Infants with HIE were identified from a California administrative birth cohort using ICD codes and divided into two epochs, Epoch 1 (2010-2015) and Epoch 2 (2016-2019). Risk ratios (RR) for induced hypothermia (IH) in each epoch and their outcomes were calculated using log-linear regression.

Sensitive dependence of pairing symmetry on Ni-e crystal field splitting in the nickelate superconductor LaNiO.

The discovery of high-temperature superconductivity in LaNiO under pressure has drawn great attention. However, consensus has not been reached on its pairing symmetry in theory. By combining density-functional-theory (DFT), maximally-localized-Wannier-function, and linearized gap equation with random-phase-approximation, we find that the pairing symmetry of LaNiO is d, if its DFT band structure is accurately reproduced by a downfolded bilayer two-orbital model.

p53-loss induced prostatic epithelial cell plasticity and invasion is driven by a crosstalk with the tumor microenvironment.

Prostate cancer is a heterogeneous disease with a slow progression and a highly variable clinical outcome. The tumor suppressor genes PTEN and TP53 are frequently mutated in prostate cancer and are predictive of early metastatic dissemination and unfavorable patient outcomes. The progression of solid tumors to metastasis is often associated with increased cell plasticity, but the complex events underlying TP53-loss-induced disease aggressiveness remain incompletely understood.

The First Multiomics Association Study of Trace Element and Mineral Concentration and RNA Sequencing Profiles in Human Cancers.

Integration of various types of omics data is an important trend in contemporary molecular oncology. In this regard, high-throughput analysis of trace and essential elements in cancer biosamples is an emerging field that has not yet been sufficiently addressed. For the first time, we simultaneously obtained gene expression profiles (RNA sequencing) and essential and trace element profiles (inductively coupled plasma mass spectrometry) for a set of human cancer samples.

Monitoring of adverse effects and quality of life during chemotherapy treatment through the EMMA Salud mobile App in patients with colorectal cancer.

Background And Aim: One third of patients with colorectal cancer (CRC) undergoing chemotherapy develop serious adverse effects. The aim was to monitor toxicities, evaluate quality of life and the usefulness of the EMMA Salud mobile App in these patients.

Patients And Methods: Prospective single-center study including patients with CRC who started fluoropyrimidine-based chemotherapy treatment between 02/2022 and 02/2023.

Efficacy and safety of PCSK9 inhibitors in real life.

Objective: To confirm the effectiveness and safety of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors in daily clinical practice.

Methods: Retrospective observational study of patients from hospital registry of PCSK9 inhibitor treatment with a follow-up ≥ 6 months. The lipid-lowering effect and safety were evaluated.

Anterior Lumbar Interbody Fusion (ALIF) Versus Full-Endoscopic/Percutaneous TLIF With a Large-Footprint Interbody Cage: A Comparative Observational Study.

Study Design: Exploratory prospective observational case-control study.

Objectives: Aim of this study was to compare clinical and radiologic outcome, as well as peri-operative complications, of anterior lumbar interbody fusion (ALIF) and full-endoscopic/percutaneous trans-Kambin transforaminal lumbar interbody fusion (pTLIF) with a large-footprint interbody cage.

Methods: Patients that underwent elective ALIF and pTLIF with a large-footprint interbody cage were prospectively evaluated.

Melatonin, modulation of hypothalamic activity, and reproduction.

Light is the most reliable environmental cue allowing animals to breed successfully when conditions are optimal. In seasonal breeders, photoperiod (length of daylight) information is sensed by the eyes and transmitted to the suprachiasmatic nucleus, the master clock region located in the hypothalamus. This structure has a 24-h firing rhythm involving a cycle of clock protein synthesis and degradation, and provides the timing to synchronize the synthesis and release of melatonin, the chemical signal that transduces the photoperiod information.

Neuropeptides in the hypothalamus.

The hypothalamus is one of the most complex region in the central nervous system regarding neuroanatomy, neurochemical content, neuropeptide/classical neurotransmitter interactions, physiological actions, and pathophysiology. Hypothalamic neuropeptides have been involved in a large plethora of mechanisms related with obesity, anxiety, feeding, energy metabolism, defensive behavior, mood, and reproduction. The therapeutic potential of these findings is enormous but the physiological complexity occurring in the hypothalamus is huge due in part to the interactions between numerous neuropeptides as well as between neuropeptides and other neuroactive substances.

Epigenetic alteration in cervical cancer induced by human papillomavirus.

The critical role of a subset of Human Papillomavirus in cervical cancer has been widely acknowledged and studied. Despite progress in our understanding of the viral molecular mechanisms of pathogenesis, knowledge of how infection with HPV oncogenic variants progresses from latent infection to incurable cancer has not been completely elucidated. In this paper we reviewed the relationship between HPV infection and epigenetic mechanisms such as histone acetylation and deacetylation, DNA methylation and non-coding RNAs associated with this infection and the carcinogenic process.

Role of miRNAs as epigenetic regulators of immune checkpoints in lung cancer immunity.

The advent of immunotherapy in cancer has provided new avenues in the treatment of many malignancies at various stages. Specifically, immune checkpoint inhibitors (ICIs) have transformed the field of lung cancer treatment. However, since some tumors can evade the immune system, not all patients respond properly.

Translation and psychometric validation of the Evidence-Based Practice Competency Questionnaire for Registered Nurses (EBP-COQ Prof©) in Bahasa Indonesia.

Aims: This study aims to translate, cross-culturally adapt, and conduct initial psychometric testing of the EBP-COQ Prof© to Bahasa Indonesia.

Background: The availability of evidence-based practice competency tools evaluating nurses' knowledge, skills attitudes and adoption in the context of Indonesian nursing practice are limited. A valid tool in EBP that measures nurses' self-perceived competency in knowledge, skills, attitudes, and utilization was used in this study for translation and psychometric validation.

Postoperative pain intensity and patient satisfaction: A multicentre observational study.

Background: Postoperative pain remains a prevalent issue, whose intensity is often inadequately controlled. This could lead to complications, longer hospital stays and unnecessary suffering. Understanding surgical patients' perspectives on pain management can help to identify areas for improvement.

The fetal cerebral Doppler in the last weeks of pregnancy can select very small fetuses unlikely to present intrapartum compromise.

Objective: To evaluate whether, in late pregnancy, the cerebral Doppler can identify very small fetuses that are less likely to experience intrapartum compromise (IC).

Material And Methods: This was a retrospective study of 282 singleton pregnancies that underwent an ultrasound scan at 32 + 0- 40 + 6 weeks and were delivered after induction, or spontaneous onset of labor. Very small fetuses were defined as fetuses with estimated weight less than the 3rd centile.

Robotic Systems in Spinal Surgery: A Review of Accuracy, Radiation Exposure, Hospital Readmission Rate, Cost, and Adverse Events.

Background: Recent advances within the last decade have allowed robotics to become commonplace in the operating room. In the field of neurosurgery, robotics assist surgeons in pedicle screw placement and vertebral fusion procedures. The purpose of this review is to look at currently used spinal robots available on the market and compare their overall accuracy, cost, radiation exposure, general adverse events, and hospital readmission rates.

Advances and stagnation in airway surgery: A historical perspective.

Airway pathology is a complex and incompletely mastered field. Historically, its management was rudimentary, with tracheostomies performed in ancient Egypt, and progress remained stagnant for millennia. Significant advances began in the late 19 century, followed by notable surgical and anesthetic progress in the mid-20 century.