Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS.

A neurotrophin functioning with a Toll regulates structural plasticity in a dopaminergic circuit.

Experience shapes the brain as neural circuits can be modified by neural stimulation or the lack of it. The molecular mechanisms underlying structural circuit plasticity and how plasticity modifies behaviour are poorly understood. Subjective experience requires dopamine, a neuromodulator that assigns a value to stimuli, and it also controls behaviour, including locomotion, learning, and memory.

PENILE ABNORMALITIES IN WILD-BORN CAPTIVE CHEETAHS ().

Penile abnormalities in cheetahs () are rare but can present significant challenges to both captive and wild populations. This is the first report of penile abnormalities in cheetahs, and results from the screening of 549 male individuals from 1994 to 2023. Four cases of penile abnormalities were identified and included three types of penile abnormalities: one case of frenulum persistence, one case of paraphimosis, and two cases of penile-preputial adherence.

Antioxidant Bioaccessibility of Cooked Gluten-Free Pasta Enriched with Tomato Pomace or Linseed Meal.

Gluten-free products lack bioactive compounds, while vegetable wastes from food manufacturing are still rich in nutrients. This study compared the antioxidants of gluten-free pastas enriched with vegetable by-products: the control formulation (66.7% rice and 33.

Sustainable Recovery of Polyphenols and Carotenoids from Horned Melon Peel via Cloud Point Extraction.

Using natural plant extracts as food additives is a promising approach for improving food products' quality, nutritional value, and safety, offering advantages for both consumers and the environment. Therefore, the main goal of this study was to develop a sustainable method for extracting polyphenols and carotenoids from horned melon peel using the cloud point extraction (CPE) technique, intending to utilize it as a natural food additive. CPE is novel promising extraction method for separation and pre-concentration of different compounds while being simple, inexpensive, and low-toxic.

Endoparasitism and risk factors in horses from ethnic communities in Andean areas of southern Chile.

Parasitic infections are among the most important causes of morbidity and mortality in horses worldwide. In the Andean mountainous regions of Chile, horses are a highly valued specie, playing a key role as working animals also providing support in cattle transhumance grazing into high mountainous areas during dry season. The breeding and maintenance of horses in the mountainous region of La Araucanía in Chile is a key issue allowing to the subsistence economy of communities with a strong ethnic component represented by Mapuche-Pehuenche origin families.

Pulmonary infection by Lophomonas spp. and Aspergillus spp. in a B-cell acute lymphocytic leukemia patient from Chile.

The flagellated protozoan Lophomonas spp. is a commensal microorganism found in the intestinal tracts of cockroaches, termites, mites, and certain birds. It is the causative agent of a rare infection in humans called lophomoniasis, primarily affecting the lungs and mainly immunocompromised individuals.

Histone deacetylase inhibition expands cellular proteostasis repertoires to enhance neuronal stress resilience.

Neurons are long-lived, terminally differentiated cells with limited regenerative capacity. Cellular stressors such as endoplasmic reticulum (ER) protein folding stress and membrane trafficking stress accumulate as neurons age and accompany age-dependent neurodegeneration. Current strategies to improve neuronal resilience are focused on using factors to reprogram neurons or targeting specific proteostasis pathways.

Transcriptional regulator MarT negatively regulates MarT-regulated motility gene I, a new gene involved in invasion and virulence of .

The speciation of occurred by acquisition of genomic islands from other bacterial species and continued to diverge into subspecies and serovars with diferent range of host. serovar Typhimurium (STM) is a generalist pathogen infecting hosts that include birds, mice, and humans, whilst serovar Typhi (STY) is a restricted-host pathogen, infecting only humans. Despite their ranges of hosts, STM and STY possess 97-98% identity.

Enhancing Maturation and Translatability of Human Pluripotent Stem Cell-Derived Cardiomyocytes through a Novel Medium Containing Acetyl-CoA Carboxylase 2 Inhibitor.

Human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs) constitute an appealing tool for drug discovery, disease modeling, and cardiotoxicity screening. However, their physiological immaturity, resembling CMs in the late fetal stage, limits their utility. Herein, we have developed a novel, scalable cell culture medium designed to enhance the maturation of hPSC-CMs.

Recruited atypical Ly6G macrophages license alveolar regeneration after lung injury.

The lung is constantly exposed to airborne pathogens and particles that can cause alveolar damage. Hence, appropriate repair responses are essential for gas exchange and life. Here, we deciphered the spatiotemporal trajectory and function of an atypical population of macrophages after lung injury.

Point Mutations in Furazolidone and Rifampicin Resistance Genes in Strains from Colombia.

The eradication of is a valid strategy for preventing gastric cancer; however, the therapeutic failure of first-line treatments in Colombia is associated with high resistance to metronidazole and amoxicillin. This study explored alternative antibiotics and analyzed point mutations in resistance genes to furazolidone and rifampicin in order to include them in rescue therapy regimens. A total of 239 complete genomes of Colombian strains were compared to that of the ATCC 26695 strain to identify mutations in the and genes for rifampicin and furazolidinone resistance, respectively.

Thermostable in vitro transcription-translation compatible with microfluidic droplets.

Background: In vitro expression involves the utilization of the cellular transcription and translation machinery in an acellular context to produce one or more proteins of interest and has found widespread application in synthetic biology and in pharmaceutical biomanufacturing. Most in vitro expression systems available are active at moderate temperatures, but to screen large libraries of natural or artificial genetic diversity for highly thermostable enzymes or enzyme variants, it is instrumental to enable protein synthesis at high temperatures.

Objectives: Develop an in vitro expression system operating at high temperatures compatible with enzymatic assays and with technologies that enable ultrahigh-throughput protein expression in reduced volumes, such as microfluidic water-in-oil (w/o) droplets.

A New Coding System for the Identification of Left Ventricular Rotation Patterns and Their Relevance to Myocardial Function.

Rotational mechanics is a fundamental determinant of left ventricular ejection fraction (LVEF). The coding system currently employed in clinical practice does not distinguish between rotational patterns. We propose an alternative coding system that makes possible to identify the rotational pattern of the LV and relate it to myocardial function.

Design of a New Vaccine Prototype against Porcine Circovirus Type 2 (PCV2), and Based on Multiple Antigens Microencapsulation with Sulfated Chitosan.

This work evaluated in vivo an experimental-multivalent-vaccine (EMV) based on three Porcine Respiratory Complex (PRC)-associated antigens: Porcine Circovirus Type 2 (PCV2), (Mhyop) and (Mhyor), microencapsulated with sulfated chitosan (M- ChS + PRC-antigens), postulating chitosan sulphate (ChS) as a mimetic of the heparan sulfate receptor used by these pathogens for cell invasion. The EMV was evaluated physicochemically by SEM (Scanning-Electron-Microscopy), EDS (Energy-Dispersive-Spectroscopy), Pdi (Polydispersity-Index) and zeta potential. Twenty weaned pigs, distributed in four groups, were evaluated for 12 weeks.

Resident and recruited macrophages differentially contribute to cardiac healing after myocardial ischemia.

Cardiac macrophages are heterogenous in phenotype and functions, which has been associated with differences in their ontogeny. Despite extensive research, our understanding of the precise role of different subsets of macrophages in ischemia/reperfusion (I/R) injury remains incomplete. We here investigated macrophage lineages and ablated tissue macrophages in homeostasis and after I/R injury in a CSF1R-dependent manner.

Lipid mediators in neutrophil biology: inflammation, resolution and beyond.

Purpose Of Review: Acute inflammation is the body's first defense in response to pathogens or injury. Failure to efficiently resolve the inflammatory insult can severely affect tissue homeostasis, leading to chronic inflammation. Neutrophils play a pivotal role in eradicating infectious pathogens, orchestrating the initiation and resolution of acute inflammation, and maintaining physiological functions.

A concept of dual-responsive prodrugs based on oligomerization-controlled reactivity of ester groups: an improvement of cancer cells neutrophils selectivity of camptothecin.

Many known chemotherapeutic anticancer agents exhibit neutropenia as a dose-limiting side effect. In this paper we suggest a prodrug concept solving this problem for camptothecin (HO-cpt). The prodrug is programmed according to Boolean "AND" logic.

Antimicrobial Activity and Phytochemical Characterization of Pers., a Native Plant of the Central Chilean Coast.

Few sclerophyllous plants from the central coast of Chile have been systematically studied. This work describes the phytochemical composition and antimicrobial properties of Pers. (sin.

Embracing cancer complexity: Hallmarks of systemic disease.

The last 50 years have witnessed extraordinary developments in understanding mechanisms of carcinogenesis, synthesized as the hallmarks of cancer. Despite this logical framework, our understanding of the molecular basis of systemic manifestations and the underlying causes of cancer-related death remains incomplete. Looking forward, elucidating how tumors interact with distant organs and how multifaceted environmental and physiological parameters impinge on tumors and their hosts will be crucial for advances in preventing and more effectively treating human cancers.

Recombinant human soluble domain of CD39L3 and ticagrelor: cardioprotective effects in experimental myocardial infarction.

Background And Aims: The ecto-nucleoside triphosphate diphosphohydrolases of the CD39 family degrade ATP and ADP into AMP, which is converted into adenosine by the extracellular CD73/ecto-5-nucleotidase. This pathway has been explored in antithrombotic treatments but little in myocardial protection. We have investigated whether the administration of solCD39L3 (AZD3366) confers additional cardioprotection to that of ticagrelor alone in a pre-clinical model of myocardial infarction (MI).