Burnt Plastic (Pyroplastic) from the M/V Ship Fire and Plastic Spill Contain Compounds That Activate Endocrine and Metabolism-Related Human and Fish Transcription Factors.

In May 2021, the M/V ship fire disaster led to the largest maritime spill of resin pellets (nurdles) and burnt plastic (pyroplastic). Field samples collected from beaches in Sri Lanka nearest to the ship comprised nurdles and pieces of pyroplastic. Three years later, the toxicity of the spilled material remains unresolved.

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.

Phenotypic Sorting of Pink Salmon Hatchery Strays May Alleviate Adverse Impacts of Reduced Variation in Fitness-Associated Traits.

Maladapted immigrants may reduce wild population productivity and resilience, depending on the degree of fitness mismatch between dispersers and locals. Thus, domesticated individuals escaping into wild populations is a key conservation concern. In Prince William Sound, Alaska, over 700 million pink salmon () are released annually from hatcheries, providing a natural experiment to characterize the mechanisms underlying impacts to wild populations.

Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe.

Background: The Roma population are an endogamous, genetically isolated, minority population who migrated from North-Western India to Europe from the 10th Century throughout the Byzantine period and continues to the present day. Approximately 10-12 million Romani people reside in segregated settlements in Europe, and smaller populations live in North America and China. In addition to the endogamy, they also practice consanguinity.

How can virtual reality help to understand consciousness? A thematic analysis of students' experiences in a novel virtual environment.

Research on consciousness typically presents stimuli and records the responses that follow, to infer the intervening processes. Yet, VR allows ecological validity by giving the user freedom to continuously control their sensory input across three spatial dimensions via head and eye movement. We designed a virtual world in which the angle of view relates to the information complexity of the sensory input.

Minoritized Student Identities and Food Insecurity: Associations with Financial Stress, Academic Satisfaction, and Mental Health.

College student food insecurity represents a growing public health concern, and students with minoritized identities (e.g., students who belong to racial/ethnic minority groups and students with a non-heterosexual sexual orientation) are at elevated risk.

Integrative Multiomic Profiling of Triple-Negative Breast Cancer for Identifying Suitable Therapies.

Purpose: Triple-negative breast cancer (TNBC) is a heterogeneous disease that carries the poorest prognosis of all breast cancers. Although novel TNBC therapies in development are frequently targeted toward tumors carrying a specific genomic, transcriptomic, or protein biomarker, it is poorly understood how these biomarkers are correlated.

Experimental Design: To better understand the molecular features of TNBC and their correlation with one another, we performed multimodal profiling on a cohort of 95 TNBC.

Species distribution modeling of northern sea otters () in a data-limited ecosystem.

Species distribution models (SDMs) are used to map and predict the geographic distributions of animals based on environmental covariates. Typically, SDMs require high-resolution habitat data and time series information on animal locations. For data-limited regions, defined as having scarce habitat or animal survey data, modeling is more challenging, often failing to incorporate important environmental attributes.

Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype.

KBG syndrome is characterised by developmental delay, dental (macrodontia of upper central incisors), craniofacial and skeletal anomalies. Since the identification of variants in the gene () responsible for KBG syndrome, wider phenotypes are emerging. While there is phenotypic variability within many features of KBG syndrome, epilepsy is not usually markedly severe and movement disorders largely undocumented.

Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication.

Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant sclerosing osteodysplasia, due to AMER1 pathogenic variants. Characteristic features include craniofacial sclerosis and long-bone metaphyseal striations. Moyamoya disease (a type of progressive cerebral vasculopathy) and other types of cerebral vascular disease are not currently clearly associated with OSCS (except for two separate case reports), and can often first present with stroke.

Therapeutic plasma exchange in paediatric nephrology in Ireland.

Background: Therapeutic plasma exchange (TPE) is utilised in the management of a limited number of paediatric renal conditions. Despite its widespread acceptance and advancements in the practice of apheresis, there remains a paucity of data pertaining to paediatrics. We present a large retrospective review of our cohort of paediatric patients undergoing TPE for renal indications, outlining their outcomes and complications.

Additional Validation of the Minnesota Multiphasic Personality Inventory-3 (MMPI-3) Eating Concerns Scale.

Maladaptive eating behaviors are typically associated with significant impairment in psychological functioning more broadly. The Minnesota Multiphasic Personality Inventory (MMPI) family of instruments has traditionally been the most frequently used psychological assessment of psychopathology by clinical psychologists. The most recent version, the MMPI-3, features a new Eating Concerns (EAT) scale that screens for the presence of problematic eating behaviors.

Increased rates of invasive bacterial disease in late 2022.

Invasive bacterial disease is associated with significant morbidity and mortality. In winter 2022, there was an apparent increased rate of invasive bacterial disease compared to preceding years. Cross-site retrospective analysis of the three Children's Health Ireland (CHI) hospitals looking at children admitted between 1st October 2022-31st December 2022 (Q4) with community-acquired invasive bacterial disease, defined as an abscess in a normally sterile site in the head, neck and chest or isolation or PCR detection of Streptococcus pneumoniae, Neisseria meningitidis, Streptococcus pyogenes (Group A streptococcus) or Haemophilus influenzae from a normally sterile site.

Spatiotemporally organized immunomodulatory response to SARS-CoV-2 virus in primary human broncho-alveolar epithelia.

The COVID-19 pandemic continues to be a health crisis with major unmet medical needs. The early responses from airway epithelial cells, the first target of the virus regulating the progression toward severe disease, are not fully understood. Primary human air-liquid interface cultures representing the broncho-alveolar epithelia were used to study the kinetics and dynamics of SARS-CoV-2 variants infection.

Eculizumab in STEC-HUS: a paradigm shift in the management of pediatric patients with neurological involvement.

Background: Eculizumab for the treatment of atypical hemolytic uremic syndrome (HUS) is a standard of care. Central nervous system (CNS) involvement in Shiga toxin-producing Escherichia coli (STEC)-HUS is associated with increased morbidity and mortality. There is no consensus on the use of plasma exchange and/or eculizumab.

Everolimus precision therapy for the GATOR1-related epilepsies: A case series.

Background: Pathogenic variants in the GAP activity towards RAGs 1 (GATOR1) complex genes (DEPDC5, NPRL2, NPRL3) cause focal epilepsy through hyperactivation of the mechanistic target of rapamycin pathway. We report our experience using everolimus in patients with refractory GATOR1-related epilepsy.

Methods: We performed an open-label observational study of everolimus for drug-resistant epilepsy caused by variants in DEPDC5, NPRL2 and NPRL3.

Fall migration, oceanic movement, and site residency patterns of eastern red bats (Lasiurus borealis) on the mid-Atlantic Coast.

Along the mid-Atlantic coast of the United States, eastern red bats (Lasiurus borealis) are present during fall mating and migration, though little is currently known about most aspects of bat migration. To reveal migration patterns, and understand drivers of over-water flight, we captured and radio-tagged 115 eastern red bats using novel technology, and subsequently tracked and described their movements throughout the region. We compared over-water flight movements to randomly generated patterns using a use-availability framework, and subsequently used a generalized linear mixed effects model to assess the relationship of over-water flight to atmospheric variables.