Heterozygous germline TET2 loss-of-function variants associated with an ALPS-like phenotype.

Germline homozygous loss-of-function mutations in TET2 result in significant childhood immunodeficiency that resembles autoimmune lymphoproliferative syndrome and predisposes one to lymphoma. The implications of heterozygous variants are less well understood. We describe four patients with heterozygous germline loss-of-function TET2 mutations who presented with B-cell lymphoma on a background of chronic lymphadenopathy and autoimmune features.

Engineering Pancreatic Organoids.

Experimental cell culture models that mimic the intricate features of organs offer significant potential for fundamental research and clinical applications. In order to enhance the growth of organoids, various matrices have been developed to replicate the essential character-istics of the tissue microenvironment through physical, chemical, and mechanical cues. Recent advancements in biomaterial technology have further refined the cultivation of organoids.

Correction: Using machine learning to understand age and gender classification based on infant temperament.

[This corrects the article DOI: 10.1371/journal.pone.

Evaluation Recovery of Ulcerative Colitis with a Cocktail Derived from Traditional Dairy Products: Study.

Background: This investigation investigates the anti-inflammatory and fibrinolytic effects of a cocktail of probiotics derived from traditional dairy products in a murine model of ulcerative colitis (UC).

Materials And Methods: A mix of newly isolated probiotics containing , and was characterized and orally administered to inbred eight-week-old C57BL/6 male mice (n = 6). Clinical symptoms, pathohistological changes, and inflammatory and fibrosis markers were analyzed in the existence and absence of probiotics in colitis mice.

Beneficial effects of physical exercise on cognitive-behavioral impairments and brain-derived neurotrophic factor alteration in the limbic system induced by neurodegeneration.

Neurodegenerative diseases (NDDs) are a class of neurological disorders marked by the progressive loss of neurons that afflict millions of people worldwide. These illnesses affect brain connection, impairing memory, cognition, behavior, sensory perception, and motor function. Alzheimer's, Parkinson's, and Huntington's diseases are examples of common NDDs, which frequently include the buildup of misfolded proteins.

Spectro-temporal acoustical markers differentiate speech from song across cultures.

Humans produce two forms of cognitively complex vocalizations: speech and song. It is debated whether these differ based primarily on culturally specific, learned features, or if acoustical features can reliably distinguish them. We study the spectro-temporal modulation patterns of vocalizations produced by 369 people living in 21 urban, rural, and small-scale societies across six continents.

Investigating and Quantifying Molecular Complexity Using Assembly Theory and Spectroscopy.

Current approaches to evaluate molecular complexity use algorithmic complexity, rooted in computer science, and thus are not experimentally measurable. Directly evaluating molecular complexity could be used to study directed vs undirected processes in the creation of molecules, with potential applications in drug discovery, the origin of life, and artificial life. Assembly theory has been developed to quantify the complexity of a molecule by finding the shortest path to construct the molecule from building blocks, revealing its molecular assembly index (MA).

The presence of fear: How subjective fear, not physiological changes, shapes the experience of presence.

When we become engrossed in novels, films, games, or even our own wandering thoughts, we can feel present in a reality distinct from the real world. Although this subjective sense of presence is, presumably, a ubiquitous aspect of conscious experience, the mechanisms that produce it are unknown. Correlational studies conducted in virtual reality have shown that we feel more present when we are afraid, motivating claims that physiological changes contribute to presence; however, such causal claims remain to be evaluated.

Colorectal Cancer Stem Cell Biomarkers: Biological Traits and Prognostic Insights.

Due to self-renewal, differentiation, and limitless proliferation properties, Cancer Stem Cells (CSCs) increase the probability of tumor development. These cells are identified by using CSC markers, which are highly expressed proteins on the cell surface of CSCs. Recently, the therapeutic application of CSCs as novel biomarkers improved both the prognosis and diagnosis outcome of colorectal Cancer.

Eosinophilia and wheeze: thinking beyond asthma.

https://bit.ly/4bgDP1u.

Discovering the unknown unknowns of research cartography with high-throughput natural description.

To succeed, we posit that research cartography will require high-throughput natural description to identify unknown unknowns in a particular design space. High-throughput natural description, the systematic collection and annotation of representative corpora of real-world stimuli, faces logistical challenges, but these can be overcome by solutions that are deployed in the later stages of integrative experiment design.

Universality, domain-specificity, and development of psychological responses to music.

Humans can find music happy, sad, fearful, or spiritual. They can be soothed by it or urged to dance. Whether these psychological responses reflect cognitive adaptations that evolved expressly for responding to music is an ongoing topic of study.

Clinical Outcomes and Evolution of Clonal Hematopoiesis in Patients with Newly Diagnosed Multiple Myeloma.

Unlabelled: Clonal hematopoiesis (CH) at time of autologous stem cell transplant (ASCT) has been shown to be associated with decreased overall survival (OS) and progression-free survival (PFS) in patients with multiple myeloma not receiving immunomodulatory drugs (IMiD). However, the significance of CH in newly diagnosed patients, including transplant ineligible patients, and its effect on clonal evolution during multiple myeloma therapy in the era of novel agents, has not been well studied. Using our new algorithm to differentiate tumor and germline mutations from CH, we detected CH in approximately 10% of 986 patients with multiple myeloma from the Clinical Outcomes in MM to Personal Assessment of Genetic Profile (CoMMpass) cohort (40/529 transplanted and 59/457 non-transplanted patients).

Universal interpretations of vocal music.

Despite the variability of music across cultures, some types of human songs share acoustic characteristics. For example, dance songs tend to be loud and rhythmic, and lullabies tend to be quiet and melodious. Human perceptual sensitivity to the behavioral contexts of songs, based on these musical features, suggests that basic properties of music are mutually intelligible, independent of linguistic or cultural content.

Thermostable allergens in canned fish: Evaluating risks for fish allergy.

Background: Major fish allergens, including parvalbumin (PV), are heat stable and can withstand extensive cooking processes. Thus, the management of fish allergy generally relies on complete avoidance. Fish-allergic patients may be advised to consume canned fish, as some fish-allergic individuals have reported tolerance to canned fish.

Ovarian adenosarcoma in a postmenopausal woman: Case report and review of literature.

Introduction And Importance: Mullerian adenosarcoma is a rare malignancy that generally occurs in the uterine corpus but uncommonly, it may be found extrauterine. Ovarian adenosarcoma is extremely rare and often is presented in reproductive age women. Most of them are low grade and have à good prognosis except for adenosarcoma with sarcomatous overgrowth.

Language experience predicts music processing in a half-million speakers of fifty-four languages.

Tonal languages differ from other languages in their use of pitch (tones) to distinguish words. Lifelong experience speaking and hearing tonal languages has been argued to shape auditory processing in ways that generalize beyond the perception of linguistic pitch to the perception of pitch in other domains like music. We conducted a meta-analysis of prior studies testing this idea, finding moderate evidence supporting it.

Comprehensive Characterization of the Multiple Myeloma Immune Microenvironment Using Integrated scRNA-seq, CyTOF, and CITE-seq Analysis.

Unlabelled: As part of the Multiple Myeloma Research Foundation (MMRF) immune atlas pilot project, we compared immune cells of multiple myeloma bone marrow samples from 18 patients assessed by single-cell RNA sequencing (scRNA-seq), mass cytometry (CyTOF), and cellular indexing of transcriptomes and epitopes by sequencing (CITE-seq) to understand the concordance of measurements among single-cell techniques. Cell type abundances are relatively consistent across the three approaches, while variations are observed in T cells, macrophages, and monocytes. Concordance and correlation analysis of cell type marker gene expression across different modalities highlighted the importance of choosing cell type marker genes best suited to particular modalities.