Variant Reclassification in Underrepresented Minority Children With Sensorineural Hearing Loss.

Objectives: Underrepresented minority (URM, comprising Hispanic, non-Hispanic Black, and Native American) children with sensorineural hearing loss have fivefold lower odds of receiving a genetic diagnosis after undergoing hearing loss gene-panel testing. Using hearing loss-specific American College of Medical Genetics (ACMG)/Association for Molecular Pathology (AMP) guidelines applied to a URM-specific cohort demonstrates the utility of these guidelines in reducing the disparity in diagnostic efficacy of genetic testing for URM populations.

Design: A total of 2740 variants from 715 patients with sensorineural hearing loss (1275 variants from 348 URM patients) were queried.

The impact of parastomal hernia on quality of life using data from the CIPHER prospective cohort study.

Objectives: Despite being a common side effect of stoma surgery, little is known about the health-related quality-of-life (HRQoL) impact of parastomal hernia (PSH). We studied the association between HRQoL and self-reported PSH using data from the large CIPHER prospective cohort study of patients living with a stoma.

Methods: Over 12 months, HRQoL was captured at up to four time points for 2,341 individuals with stomas using EuroQol-5D-5L (EQ-5D-5L).

Consolidative radiotherapy in oligometastatic and oligoprogressive NSCLC: A systematic review.

Consolidative radiation is increasingly regarded as an effective treatment for oligometastatic and oligoprogressive non-small cell lung cancer (NSCLC). This systematic review examines the clinical evidence on the significance of consolidative radiation in improving outcomes in NSCLC, including progression-free survival and overall survival. Innovations in radiotherapy, including stereotactic body radiotherapy and intensity-modulated radiotherapy, have enhanced the accuracy and effectiveness of local control in oligometastatic disease.

Coupling proteomics and lipidomics for insights into regulation of oat (Avena sativa) grain lipid synthesis.

Breeding is a feasible strategy to develop low-oil oat (Avena sativa) varieties, which aligns with specific processing needs and dietary preferences. To identify factors contributing to a low-oil phenotype, we optimised a sequential extraction workflow for proteomics and lipidomics analyses on five Australian oat varieties with different oil contents. Oat oil content positively correlated with abundances of several proteins in lipid synthesis pathways, suggesting their key lipid regulatory roles.

American College of Rheumatology (ACR) Guidance Statements for Addressing Mental Health Concerns in Youth with Pediatric Rheumatologic Diseases.

Purpose: Pediatric rheumatologic diseases (PRDs) are characterized by high rates of anxiety and depression known to impact health-related outcomes. We present guidance statements to assess and manage mental health concerns for youth with PRDs in pediatric rheumatology practice.

Methods: Development of the guidance statements was initiated in 2019 and concluded in November 2023.

Investigation of Hearing Loss in Pediatric Vitiligo.

Prior studies have investigated the association between vitiligo and sensorineural hearing loss in adults; based on this potential association, we aimed to investigate the association of vitiligo with hearing loss in children. This was conducted as an IRB-approved multi-center retrospective analysis of pure tone audiometry and otoacoustic emission testing of 158 pediatric vitiligo patients compared to 316 age- and sex-matched healthy subjects at three institutions between 2000 and 2023. Our results demonstrate no significant increased incidence of hearing deficit in pediatric vitiligo patients, though both vitiligo and control populations demonstrated increased incidence of hearing loss.

Rapid Evolution in Action: Environmental Filtering Supports Coral Adaptation to a Hot, Acidic, and Deoxygenated Extreme Habitat.

The semienclosed Bouraké lagoon in New Caledonia is a natural system that enables observation of evolution in action with respect to stress tolerance in marine organisms, a topic directly relevant to understanding the consequences of global climate change. Corals inhabiting the Bouraké lagoon endure extreme conditions of elevated temperature (> 33°C), acidification (7.2 pH units), and deoxygenation (2.

Risk environment influences affecting cocaine market expansion within post-conflict Northern Ireland.

Background: There is a lack of research examining environmental influences affecting the growth of contemporary cocaine markets in post-conflict societies. This qualitative study addresses this gap by exploring multi-faceted environmental influences affecting cocaine market expansion within the unique transitional setting of Northern Ireland from the perspective of professionals working in diverse settings.

Methods: The study employed a critical, qualitative and exploratory research design informed by the risk environment framework.

Assessing the virological response to direct-acting antiviral therapies in the HBV cure programme.

Hepatitis B virus (HBV) is a global health problem with over 250 million people affected worldwide. Nucleos(t)ide analogues remain the standard of care and suppress production of progeny virions; however, they have limited effect on the viral transcriptome and long-term treatment is associated with off-target toxicities. Promising results are emerging from clinical trials and several drug classes have been evaluated, including capsid assembly modulators and RNA interfering agents.

The Childhood Opportunity Index 2.0: Factor Structure in 9-10 Year Olds in the Adolescent Brain Cognitive Development Study.

The built physical and social environments are critical drivers of child neural and cognitive development. This study aimed to identify the factor structure and correlates of 29 environmental, education, and socioeconomic indicators of neighborhood resources as measured by the Child Opportunity Index 2.0 (COI 2.

Unlocking the agro-physiological potential of wheat rhizoplane fungi using a niche-conserved consortium construction approach with low P conditions.

Plant Growth Promoting Fungi (PGPF) hold promises for enhancing crop yield. This study delves into fungal diversity of the wheat rhizoplane across seven Moroccan agricultural regions, employing a niche-conserved strategy to construct fungal consortia (FC) exhibiting higher phosphorus (P) acquisition and plant growth promotion. This study combined culture-independent and culture-dependent methods exploring taxonomic and functional diversity in the rhizoplane of wheat plants obtained from twenty-eight zones.

Proteomic and lipidomic analyses reveal novel molecular insights into oat (Avena sativa L.) lipid regulation and crosstalk with starch synthesis during grain development.

Grain development influences the composition of oat (Avena sativa L.), which impacts the nutritional and processing value of the grains. This study explored the molecular mechanisms underlying oat grain development in two oat varieties - Bannister (10.

No Association of Pediatric Vitiligo With Visual Acuity Deficits.

Vitiligo is characterized by the autoimmune destruction of melanocytes, which most visibly affect skin pigmentation, but are also present in the choroid and retinal pigmented epithelium of the eye raising the possibility of underappreciated vision loss in affected populations. To inform whether this vulnerable population should be more rigorously screened and offered early intervention, we performed a multi-center retrospective analysis of optotype recognition of 248 pediatric vitiligo patients compared with 496 age- and sex-matched healthy subjects between 2000 and 2023; we found a significant difference in the risk of visual acuity deficits in patients as compared with healthy controls (p = 0.0476), although this association was lost when controlling for family history and genetic diagnoses associated with visual acuity deficits or vision loss.

Extended Continuous Positive Airway Pressure in Preterm Infants Increases Lung Growth at 6 Months: A Randomized Controlled Trial.

Rationale: Extended continuous positive airway pressure (eCPAP) in the neonatal intensive care unit (NICU) for stable preterm infants increases lung volumes. Its effect on lung growth after discharge is unknown.

Objective: To assess whether 2-weeks of eCPAP in stable preterm infants is associated with increased alveolar volume (V) at 6-months corrected age.

Insights into global antimicrobial resistance dynamics through the sequencing of enteric bacteria from U.S. international travelers.

Antimicrobial resistance (AMR) is an urgent threat to public health, but gaps in surveillance limit the detection of emergent novel threats and knowledge about the global distribution of AMR genes. International travelers frequently acquire AMR organisms, and thus may provide a window into AMR dynamics in otherwise poorly monitored regions and environments. To assess the utility of travelers as global AMR sentinels, we collected pre- and post-travel stool samples from 608 travelers, which were screened for the presence of extended-spectrum beta-lactamase producing Enterobacterales, carbapenem-resistant Enterobacterales, and -mediated colistin-resistant Enterobacterales.

A rapid state-of the-art review of client-reported outcomes measures used to assess dogs' clinical signs and quality of life during chemotherapy.

Background: Quality of life is an essential component of decision-making in veterinary oncology. Poor management of adverse events during chemotherapy can impair dogs' quality of life and be life-threatening. Consequently, client-reported outcome measures (CROMs) are being proposed to help assess both clinical signs and quality of life.

Antibody responses in Klebsiella pneumoniae bloodstream infection: a prospective cohort study.

Background: Klebsiella pneumoniae is a leading cause of infection-related deaths globally, yet little is known about human antibody responses to invasive K pneumoniae. We sought to determine whether the O-specific polysaccharide antigen is immunogenic in humans with K pneumoniae bloodstream infection. We also sought to define the cross-reactivity of human antibody responses among structurally related K pneumoniae O-specific polysaccharide subtypes and to assess the effect of capsule production on O-specific polysaccharide-targeted antibody binding and function.

Combining the CowPEAsy Web Application With in Planta Agroinfiltration for Native Promoter Validation in Vigna unguiculata.

Cowpea (Vigna unguiculata) is an important protein source in Sub-Saharan Africa. Optimizing resilience and productivity through genetic engineering in cowpea has been slow due in part to a lack of defined species-specific regulatory elements and difficulty testing gene function within the native system. In many plant species, Agrobacterium-mediated transient gene expression is widely used to validate constructs before investing in transgenic lines, but its implementation in legumes has been challenging.

A lack of commensal microbiota influences the male reproductive tract intergenerationally in mice.

In Brief: Germ-free mice display epididymal transcriptomic changes that were also evident in their conventionalized male offspring and mice lacking T and B cells. This paper demonstrates the role of microbiota and immune cells in the epididymis.

Abstract: The microbiome encompasses the array of microorganisms inhabiting various niches in the body and is necessary for numerous physiological processes, including normal metabolism and a functioning immune system.

Direct experimental constraints on the spatial extent of a neutrino wavepacket.

Despite their high relative abundance in our Universe, neutrinos are the least understood fundamental particles of nature. In fact, the quantum properties of neutrinos emitted in experimentally relevant sources are theoretically contested and the spatial extent of the neutrino wavepacket is only loosely constrained by reactor neutrino oscillation data with a spread of 13 orders of magnitude. Here we present a method to directly access this quantity by precisely measuring the energy width of the recoil daughter nucleus emitted in the radioactive decay of beryllium-7.

Acetyl-CoA synthesis in the skin is a key determinant of systemic lipid homeostasis.

ATP-citrate lyase (ACLY) generates cytosolic acetyl-coenzyme A (acetyl-CoA) for lipid synthesis and is a promising therapeutic target in diseases with altered lipid metabolism. Here, we developed inducible whole-body Acly-knockout mice to determine the requirement for ACLY in normal tissue functions, uncovering its crucial role in skin homeostasis. ACLY-deficient skin upregulates the acetyl-CoA synthetase ACSS2; deletion of both Acly and Acss2 from the skin exacerbates skin abnormalities, with differential effects on two major lipid-producing skin compartments.

Social Influences on Maternal Health: A Norwegian Register-Based Study.

Background: Maternal health is an important health indicator globally, and a major women's health issue. Efforts to improve maternal health can help ensure that women, their offspring, and their families reach their full potential for health and well-being.

Objectives: We analysed how social factors influence adverse maternal health outcomes and non-spontaneous delivery.

Child Opportunity Index is not Associated With Cleanliness in Patients With Anorectal Malformations Treated at Pediatric Colorectal Centers: A Multi-Institutional Study.

Background: Individually collected social determinants of health (SDOH) have been associated with negative outcomes in children with anorectal malformations (ARMs). Our aim was to assess whether the Child Opportunity Index (COI) is associated with bowel management strategy and fecal cleanliness in patients with ARM managed at specialized pediatric colorectal centers. We hypothesized that children from low COI would have lower rates of cleanliness.

Same data, different analysts: variation in effect sizes due to analytical decisions in ecology and evolutionary biology.

Although variation in effect sizes and predicted values among studies of similar phenomena is inevitable, such variation far exceeds what might be produced by sampling error alone. One possible explanation for variation among results is differences among researchers in the decisions they make regarding statistical analyses. A growing array of studies has explored this analytical variability in different fields and has found substantial variability among results despite analysts having the same data and research question.