3 months 2 weeks ago
Highly heritable, polygenic, and easily measured, adult height has long been the model trait in human genetics ^(1,2) . While the landscape of height-associated common genetic variation has been studied extensively ² , rare variation remains relatively unexplored ¹ . Using rare protein-altering variants in a discovery set of 826,066 exomes, we identify 207 height-associated genes - 98% of which replicate in an additional 624,567 individuals. The rarest and most deleterious class of variation,...
Jack A Kosmicki
3 months 2 weeks ago
Tumor-infiltrating nerves play critical roles in promoting tumor growth and progression; however, the mechanisms that drive tumor innervation remain unclear. Upon transformation, tumors recruit surrounding peripheral nerves into the tumor microenvironment (TME) to obtain their own innervation, a process called axonogenesis. While in vitro studies suggest tumor cell-derived neurotrophins, such as brain-derived neurotrophic factor (BDNF), drive axonogenesis, this has yet to be demonstrated in...
Jumana Abbadi
3 months 2 weeks ago
Pineal region tumors represent a diverse group of neoplasms arising from the pineal gland and its surrounding structures, posing unique diagnostic and surgical challenges due to their deep midline location and proximity to critical venous and neural anatomy. Advances in neuroimaging, microsurgical technique, and endoscopic technology have transformed their management, substantially improving outcomes compared to historical experiences of high morbidity and mortality. This chapter reviews the...
Zachary A Abecassis
3 months 2 weeks ago
CONCLUSIONS: This trial builds upon formative work to evaluate the effectiveness, implementation, and cost of a peer-delivered, stepped care intervention integrated into primary care. A stepped-care design to maximize optimal use of resources and integration into primary care is a necessary step to increase accessible intervention programs for people with HIV with comorbid SUD globally.
Jessica F Magidson
3 months 2 weeks ago
INTRODUCTION: Neuropathic pain is one of the most common and debilitating complications following spinal cord injury (SCI), frequently surpassing motor and sensory deficits as the symptom patients most want treated. Despite advances in understanding the molecular and physiological mechanisms underlying central neuropathic pain, effective treatments remain lacking and show wide variability in efficacy. Previous reports have indicated that early intervention represents the most effective pain...
Kenneth A Fond
3 months 2 weeks ago
DEK is an estrogen-responsive chromatin-remodeling protein broadly expressed in the murine and human brain, with high expression in memory-relevant regions such as the hippocampus. Prior work from our group and others has linked DEK loss to cellular features associated with Alzheimer's disease and Alzheimer's disease-related dementias. Notably, our group has demonstrated that DEK expression declines with increasing dementia severity in women, but not in age-matched men, suggesting a sex-specific...
Kaitlyn L Gardner
3 months 2 weeks ago
Sickle cell trait (SCT) is a genetic condition characterized by a heterozygous A-T substitution (Glu to Val) in 1 copy of the β-globin (HBB) gene on chromosome 11. Although often asymptomatic, individuals with SCT can experience complications under stress, such as hypoxia, dehydration, and extreme exertion, leading to vaso-occlusion, organ damage, and impaired immune defenses. Understanding the impact of SCT on the immune system may aid in preventing clinical complications. We genotyped 720...
Abhinav K Checkervarty
3 months 2 weeks ago
CONCLUSION: This case highlights the unique airway management challenges posed by intratracheal tumors located near the carina and underscores the importance of meticulous pre-procedural planning, anticipation of complications, and readiness for emergency airway interventions during bronchoscopic treatment. Even minimally invasive procedures such as cryotherapy may lead to life-threatening airway compromise when tumors are located in critical central airway regions.
Antonio Al Hazzouri
3 months 2 weeks ago
Current guidelines acknowledge the importance of both microsurgical and neuroendovascular expertise in the treatment of cerebrovascular disease. To achieve optimal care for these patients, it is becoming increasingly evident that procedural volumes impact patient outcomes. This is demonstrated across various cerebrovascular diseases.In this literature review, we demonstrate the association of volume with patient outcomes across multiple cerebrovascular disease states and interventions....
Stacey Quintero Wolfe
3 months 3 weeks ago
Dengue virus (DENV) and chikungunya virus (CHIKV) co-circulate in many regions and present with overlapping clinical features, which complicate accurate diagnosis and disease management. This study develops an integrative transcriptomic framework to identify robust host gene signatures that distinguish between dengue, chikungunya, and healthy states. Publicly available RNA sequencing (RNA-seq) datasets derived from human blood samples were analyzed using a cross-validation design to ensure...
Mostafa Rezapour
3 months 3 weeks ago
CONCLUSION: ICP monitoring was associated with increased mortality and worse discharge outcomes in patients with sTBI. Increased mortality was largely mediated by WLST. These results question the effectiveness of ICP-guided management and highlight the major impact that decisions to WLST have on treatment effects and patient outcomes.
Christos Lazaridis
3 months 3 weeks ago
Bi-directional maternal-fetal exchange during pregnancy creates a long-term microchimerism (Mc) legacy in both individuals, but its presence and cellular fate in human brain are largely unknown. We studied surgically resected epilepsy brain specimens with targetable maternal polymorphisms using polymorphism-specific quantitative PCR. Maternal Mc was prevalent, detectable in 70% of patients, and often at striking quantities spanning temporal, frontal, parietal, and hippocampal regions. Next, we...
Sami B Kanaan
3 months 4 weeks ago
CONCLUSIONS: Patients demonstrated immediate reduction in pain but delayed improvement in SC and ODI score. Among preoperative assessments, only SCs were predictive of postoperative outcomes. Furthermore, pain scores did not correlate with disability or activity. SC demonstrated interquartile stability, suggesting that SC may provide a reliable and independent perspective and may be predictive of outcomes.
Sama Noroozi Gilandehi
3 months 4 weeks ago
No abstract
Michael Levitt
3 months 4 weeks ago
[Figure: see text]
Elaine Luterstein
4 months ago
Death certificates record causes of death as reported by certifiers (Entity Axis) and as standardized by mortality coding rules (Record Axis). Conventional statistics reduce these to a single underlying cause, ignoring other contributing conditions; weighting schemes can instead distribute the burden across all listed causes. We evaluated reclassification from Entity to Record axis and weighting across all 56,986,831 US death certificates from 2003 to 2023, mapping International Classification...
Michael Levitt
4 months ago
Quantum computers require both high-fidelity operations and large qubit numbers to surpass classical capabilities¹. Trapped-ion platforms have demonstrated the highest gate fidelities of any modality^(2-6) but scaling to larger qubit numbers while preserving performance has remained a central challenge. We report on Quantinuum Helios, a 98-qubit trapped-ion quantum processor based on the quantum charge-coupled device (QCCD) architecture⁷. Helios features ^(137)Ba^(+) hyperfine qubits^(8,9),...
Anthony Ransford
4 months ago
CONCLUSIONS: Our findings suggest that current methods of clinical identification of B-ICP episodes may not reliably distinguish true episodes of sustained ICP for the most common B-ICP episode type. We suggest developing open-source, real-time, temporally synchronized electronic B-ICP episode definition methods to direct future treatment and research.
Randall M Chesnut
4 months ago
Ceramide, a central hub in sphingolipid metabolism, serves as a critical bioactive signalling mediator that integrates lipid metabolism with multiple signalling pathways, primarily promoting autophagy and apoptosis. It influences female reproductive homeostasis and pathophysiology through multiple dimensions: altered ceramide levels have been observed in various reproductive disorders-such as polycystic ovary syndrome (PCOS), premature ovarian insufficiency (POI) and endometriosis (EM)-as well...
Wujia Wang
4 months ago
No abstract
Michael P Williams
"university of washington"[affiliation] and neurological surge...: Latest results from PubMed
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