Severe neonatal hypotonia due to variant affecting function of ZnT5 zinc transporter.

The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn transporters: the 14-member ZIP/SLC39 family, facilitating Zn influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10-member ZnT/SLC30 family, mobilizing Zn in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male-specific cardiac death in mice lacking the ZnT5/ zinc transporter, and suggested association of two homozygous frameshift variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy.

Digital light processing printing of non-modified protein-only compositions.

This study explores the utilization of digital light processing (DLP) printing to fabricate complex structures using native gelatin as the sole structural component for applications in biological implants. Unlike approaches relying on synthetic materials or chemically modified biopolymers, this research harnesses the inherent properties of gelatin to create biocompatible structures. The printing process is based on a crosslinking mechanism using a di-tyrosine formation initiated by visible light irradiation.

The proteomic response of to amphotericin B (AmB) reveals the involvement of the RTA-like protein RtaA in AmB resistance.

The polyene antimycotic amphotericin B (AmB) and its liposomal formulation AmBisome belong to the treatment options of invasive aspergillosis caused by . Increasing resistance to AmB in clinical isolates of species is a growing concern, but mechanisms of AmB resistance remain unclear. In this study, we conducted a proteomic analysis of exposed to sublethal concentrations of AmB and AmBisome.

Communities conquering COVID-19: Black and Latinx community perspectives on the impact of COVID-19 in regions of Michigan hardest hit by the pandemic.

Introduction: In Michigan, the COVID-19 pandemic severely impacted Black and Latinx communities. These communities experienced higher rates of exposure, hospitalizations, and deaths compared to Whites. We examine the impact of the pandemic and reasons for the higher burden on communities of color from the perspectives of Black and Latinx community members across four Michigan counties and discuss recommendations to better prepare for future public health emergencies.

Adult Plastic Bronchitis: A Rare Cause for Chronic Productive Cough.

Plastic bronchitis is a rare disease with serious morbidity. We report a case of a 48-year-old male smoker with a past medical history of diabetes, emphysema, recurrent respiratory infections, a worsening productive cough, and increased oxygen requirement over the past 3 months. Often described in the pediatric population, it is important to maintain plastic bronchitis in the differential when considering unresolving pulmonary conditions with chronic sputum production.

Hyperreflective retinal foci are associated with retinal degeneration after optic neuritis in neuromyelitis optica spectrum disorders and multiple sclerosis.

Background: Hyperreflective retinal foci (HRF) visualized by optical coherence tomography (OCT) potentially represent clusters of microglia. We compared HRF frequencies and their association with retinal neurodegeneration between people with clinically isolated syndrome (pwCIS), multiple sclerosis (pwMS), aquaporin 4-IgG positive neuromyelitis optica spectrum disorder (pwNMOSD), and healthy controls (HC)-as well as between eyes with (ONeyes) and without a history of optic neuritis (ONeyes).

Methods: Cross-sectional data of pwCIS, pwMS, and pwNMOSD with previous ON and HC were acquired at Charité-Universitätsmedizin Berlin.

The Omics-Driven Machine Learning Path to Cost-Effective Precision Medicine in Chronic Kidney Disease.

Chronic kidney disease (CKD) poses a significant and growing global health challenge, making early detection and slowing disease progression essential for improving patient outcomes. Traditional diagnostic methods such as glomerular filtration rate and proteinuria are insufficient to capture the complexity of CKD. In contrast, omics technologies have shed light on the molecular mechanisms of CKD, helping to identify biomarkers for disease assessment and management.

The Population-Based Incidence and Prevalence of Catatonia.

Objective: Catatonia is a neuropsychiatric disorder that is associated with a range of medical and psychiatric illnesses. Although many single-center studies have been conducted, uncertainty over the population-based incidence and prevalence of the disorder remains. This study reports on the incidence and prevalence rates of catatonia extrapolated from two large epidemiologic studies in the United Kingdom and United States.

Estimating the Early Transmission Inhibition of new treatment regimens for drug-resistant tuberculosis.

Introduction: Most drug-resistant tuberculosis (DR-TB) occurs due to transmission of unsuspected or ineffectively treated DR-TB. The duration of treatment to stop person-to-person spread of DR-TB is uncertain. We evaluated the impact of novel regimens, including BPaL, on DR-TB transmission using the human-to-guinea pig (H-GP) transmission model.

Impact of Sodium-Glucose Co-Transporter 2 Inhibitors on Atrial Fibrillation Recurrence Post-Catheter Ablation Among Patients With Type 2 Diabetes Mellitus: A Systematic Review and Meta-Analysis.

Atrial fibrillation (AF) is the most common cause of arrhythmia-induced cardiomyopathy. Effective management strategies include medical therapy for rate and rhythm control, catheter ablation (CA), and goal-directed medical therapy. Sodium-glucose co-transporter 2 inhibitors (SGLT2i), a novel class of antidiabetic drugs, have shown a promising impact in reducing cardiovascular events in diabetic and nondiabetic heart failure (HF) patients.

Efficacy and safety of ibuprofen and naproxen in the treatment of oligoarticular juvenile idiopathic arthritis: bi-national cohort study.

Objectives: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in children. Nonsteroidal anti-inflammatory drugs (NSAIDs) and intra-articular corticosteroid injections are first-line therapy for oligoarticular JIA. NSAIDs Adverse events (AEs) include gastrointestinal ulcers/bleeding and impaired renal function.

Nitrogen Assimilation Plays a Role in Balancing the Chloroplastic Glutathione Redox Potential Under High Light Conditions.

Nitrate reduction requires reducing equivalents produced by the photosynthetic electron transport chain. Therefore, it has been suggested that nitrate assimilation provides a sink for electrons under high light conditions. We tested this hypothesis by monitoring photosynthetic efficiency and the chloroplastic glutathione redox potential (chl-E) of plant lines with mutated glutamine synthetase 2 (GS2) and ferredoxin-dependent glutamate synthase 1 (GOGAT1).

Effect of daily alcohol intake on sex hormone levels among postmenopausal breast cancer survivors on aromatase inhibitor therapy: a randomized controlled crossover pilot study.

Background: Alcohol intake is associated with a higher risk of estrogen receptor-positive (ER+) breast cancer (BC), presumably through its confirmed ability to increase sex hormone levels. Whether consuming alcohol within the recommended limit of one serving per day increases sex hormone levels among postmenopausal women taking aromatase inhibitors (AI) to inhibit estrogen production remains unknown. Therefore, we compared sex hormone levels following white wine to levels following white grape juice among ER + BC survivors taking AIs.

Aneurysm dome and vessel pressure measurements with coiling, stent assisted coiling and flow diversion.

Background: Variability in long-term endovascular treatment outcomes for intracranial aneurysms has prompted questions regarding the effects of these treatments on aneurysm hemodynamics. Endovascular techniques disrupt aneurysmal blood flow and shear, but their influence on intra-aneurysmal pressure remains unclear. A better understanding of aneurysm pressure effects may aid in predicting outcomes and guiding treatment decisions.

IRE1α-XBP1 safeguards hematopoietic stem and progenitor cells by restricting pro-leukemogenic gene programs.

Hematopoietic stem cells must mitigate myriad stressors throughout their lifetime to ensure normal blood cell generation. Here, we uncover unfolded protein response stress sensor inositol-requiring enzyme-1α (IRE1α) signaling in hematopoietic stem and progenitor cells (HSPCs) as a safeguard against myeloid leukemogenesis. Activated in part by an NADPH oxidase-2 mechanism, IRE1α-induced X-box binding protein-1 (XBP1) mediated repression of pro-leukemogenic programs exemplified by the Wnt-β-catenin pathway.

Systemic regulation of retinal medium-chain fatty acid oxidation repletes TCA cycle flux in oxygen-induced retinopathy.

Activation of anaplerosis takes away glutamine from the biosynthetic pathways to the energy-producing TCA cycle. Especially, induction of hyperoxia driven anaplerosis in neurovascular tissues such as the retina during early stages of development could deplete biosynthetic precursors from newly proliferating endothelial cells impeding physiological angiogenesis and leading to vasoobliteration. Using an oxygen-induced retinopathy (OIR) mouse model, we investigated the metabolic differences between OIR-resistant BALB/cByJ and OIR susceptible C57BL/6J strains at system levels to understand the molecular underpinnings that potentially contribute to hyperoxia-induced vascular abnormalities in the neural retina.

Understanding the Medical Education Experiences of Low-Income Students Through a Maslow's Hierarchy of Needs Lens: An Exploratory Qualitative Study.

Background: Diversity in the physician workforce is critical for quality patient care. Students from low-income backgrounds represent an increasing proportion of medical school matriculants, yet little research has addressed their medical school experiences.

Objective: To explore the medical school experiences of students from low-income backgrounds using a modified version of Maslow's Hierarchy of Needs (physiologic, safety, love/belonging, esteem, and self-actualization) as a theoretical framework.

Bolus-Tracked Biphasic Contrast-Enhanced CT Imaging Following Microwave Liver Ablation Improves Ablation Zone Conspicuity and Semi-automatic Segmentation Quality.

Purpose: Contrast-enhanced CT (CECT) may be performed immediately following microwave liver ablation for assessment of ablative margins. However, practices and protocols vary among institutions. Here, we compare a standardized bolus-tracked biphasic CECT protocol and compare this with a single venous phase fixed delay protocol for ablation zone (AZ) assessment.

Immunogenomic determinants of exceptional response to immune checkpoint inhibition in renal cell carcinoma.

Immune checkpoint inhibitors can lead to 'exceptional', durable responses in a subset of persons. However, the molecular basis of exceptional response (ER) to immunotherapy in metastatic clear cell renal cell carcinoma (mccRCC) has not been well characterized. Here we analyzed pretherapy genomic and transcriptomic data in treatment-naive persons with mccRCC treated with standard-of-care immunotherapies: (1) combination of programmed cell death protein and ligand 1 (PD1/PDL1) and cytotoxic T lymphocyte-associated protein 4 inhibitors (IO/IO) or (2) combination of PD1/PDL1 and vascular endothelial growth factor (VEGF) receptor inhibitors (IO/VEGF).

Incremental benefit of high dose compared to standard dose influenza vaccine in reducing hospitalizations.

Evidence regarding the high-dose (HD) vaccine's relative vaccine effectiveness (rVE) and absolute benefit in reducing influenza-related hospitalizations compared to the standard-dose (SD) vaccine is warranted. We estimated the adjusted rVE and the number needed to vaccinate (NNV) of the HD vaccine compared to the SD vaccine among Clalit Health Services members aged ≥65 years. Among 418,603 and 393,125 members vaccinated in the 2022-2023 and 2023-2024 influenza seasons, the adjusted rVE was 27% (95% CI: -12% to 61%) for 2022-2023 and 7% (95% CI: -36% to 42%) for 2023-2024, with NNV to prevent one hospitalization event being 2262 (95% CI: 1004 to ∞) and 7662 (95% CI: 1293 to ∞), respectively.

Styles of Delivering News About a Child's Cancer and Parents' PTSD Symptoms.

Background: Receiving a child's cancer diagnosis is a highly traumatic experience for parents, often leading to significant psychological distress, including symptoms of Post-Traumatic Stress Disorder (PTSD). The way healthcare professionals deliver this news can affect the severity of parents' reactions. While some research examines communication style's impact on patients, few studies focus on its effects on parents.

LGR5 as a diagnostic marker for dysplasia in serrated polyps.

Aims: WNT signalling pathway dysregulation is often a critical early component in colorectal neoplasia, particularly the chromosomal instability pathway. Using two WNT reporters, and , we sought to assess whether these polyps demonstrate predictable expression patterns and if these patterns show diagnostic value.

Methods: We evaluated 23 adenomas (TA), 23 sessile serrated lesions (SSLs), 14 SSL with dysplasia and 38 traditional serrated adenomas (TSA).