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Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel Blockers

Study demonstrates that elicited repetitive daily blindness is a clinical feature in patients with familial hemiplegic migraine 3 because of gain-of-function Nav1.1 variants. Patients in this report responded to sodium channel blocker medications.


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Phage immunoprecipitation sequencing is a powerful technique that can quantify antibody binding to all known viruses, human proteome, bacterial toxins, and allergens

https://doi.org/10.1172/jci.insight.203645 Here, Aaron A.R. Tobian & team use this method to evaluate antibody repertoires in kidney donors with and without HIV, reporting that antibodies against adenovirus infection in kidney donors with HIV may be associated with allograft rejection.


2Department of Pathology, School of Medicine, and.

3Department of Medicine, School of Medicine, The Johns Hopkins University, Baltimore, Maryland, USA.

4Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.

IL-4 treatment induces apoptosis of blood monocytes and proliferation of recruited injury-associated macrophages to resolve liver injury

Pathways that favor the balance of immune cells toward those with healing potential offer therapeutic promise following injury. Here, Lynch at al. show that treatment with IL-4 expands pro-reparative macrophages through proliferation while driving concurrent death of their more inflammatory precursors, resulting in accelerated hepatic repair following acute liver injury.

Atypical Carcinoid of the Thymus: Early Diagnosis in a Case Report

Background: Atypical carcinoid of the thymus is an exceptionally rare neuroendocrine tumor originating from neuroendocrine cells within the thymus. These tumors often present with no symptoms or with nonspecific clinical signs, making early diagnosis particularly challenging. Despite their rarity, atypical carcinoids are clinically significant due to their aggressive nature and relatively poor prognosis. Early detection and appropriate management are therefore crucial to improving patient outcomes. Results: In this report, we present the case of a 64-year-old patient in whom an atypical carcinoid of the thymus was incidentally discovered following a thoracic computed tomography scan performed for unrelated reasons. Imaging revealed a suspicious anterior mediastinal mass, which was subsequently surgically resected.

Opportunities and challenges in applying microbiota to clinical cancer immunotherapy

Microbiota in clinical cancer immunotherapy.

Gut microbiota research has progressed from mechanistic studies to clinical trials, revealing strong potential to enhance cancer immunotherapy.

Fecal microbiota transplantation, single bacterial strains, and defined microbial consortia are in clinical testing; yet, standardization and implementation remain major challenges.

Donor selection, patient enrollment, microbiota implantation, antibiotic use, safety assessment, and endpoint evaluation each offer distinct opportunities and obstacles.

A ‘4D’ framework, enhancing diversity, diffusion, depth, and delicacy, can guide the optimization of microbiomebased immunotherapy. sciencenewshighlights ScienceMission https://sciencemission.com/microbiota-to-clinical-cancer


Fundamental research has elucidated the indispensable role of gut microbiota in modulating cancer immunotherapy efficacy. Despite promising preclinical findings, few related approaches have reached clinical trials. In this opinion, we provide insights based on current clinical trials using fecal microbiota transplant or specific bacterial strains as adjuvants to enhance immune checkpoint blockade therapy. We also systematically analyze the challenges in trial design, with a focus on donor selection, patient enrollment, implantation procedures, antibiotic use, safety assessment, and endpoint evaluation. Moving forward, we offer a comprehensive ‘4D’ framework (diversity, diffusion, depth, and delicacy) for accelerating the bench-to-bedside translation.

Oxidative stress-induced astrocytic collagen biosynthesis drives glial barrier formation and neuronal death in ischemic stroke

Online now: Lee et al. demonstrate that oxidative stress reprograms astrocytes to produce collagen through glycosylation-dependent mechanisms, driving glial barrier formation and progressive neuronal death after stroke. Targeting this pathway disrupts the glial barrier, prevents neurodegeneration, and improves functional recovery. A drug candidate, KDS12025, shows a potent effect in a non-human primate stroke model.

Group averages obscure how an individual’s brain controls behavior, study finds

Studying cognition by averaging data from many people’s brain scans hides how individuals use their brains, new Stanford Medicine research has shown. In particular, children who struggle with goal-oriented tasks show distinct patterns of brain activity when their data is analyzed individually, rather than as part of a group of kids with mixed abilities. The findings, which have implications for understanding how the brain works in such conditions as attention-deficit/hyperactivity disorder, will be published April 27 in Nature Communications.

“Investigating how dynamics unfold within individual brains can provide significant insights into the neuroscience of individual differences and help us tackle questions that cannot be answered using conventional approaches,” said Percy Mistry, Ph.D., a research scholar in psychiatry and behavioral sciences, and a lead author of the study.

Mistry shares lead authorship with Nicholas Branigan, MS, a research data analyst in psychiatry and behavioral sciences. The senior author is Vinod Menon, Ph.D., a professor of psychiatry and behavioral sciences and the Rachael L. and Walter F. Nichols, MD, Professor.

AI tool may spot ADHD years before children are diagnosed

Attention-deficit/hyperactivity disorder (ADHD) affects millions of children, yet many go years without a diagnosis, missing the chance for early support that can change long-term outcomes even when early signs are present. In a new study, Duke Health researchers found that artificial intelligence tools can analyze routine electronic health records to accurately estimate a child’s risk of developing ADHD years before a typical diagnosis. By reviewing patterns in everyday medical data, the approach could help flag children who may benefit from earlier evaluation and follow-up.

The research, published in Nature Mental Health, highlights how powerful insights can come from information already collected during regular health care visits to help support early decision making by primary care providers.

“We have this incredibly rich source of information sitting in electronic health records,” said Elliot Hill, lead author of the study and data scientist in the Department of Biostatistics & Bioinformatics at Duke University School of Medicine.

Global genetic interaction network of a human cell maps conserved principles and informs functional interpretation of gene co-essentiality profiles

Now online! CRISPR perturbation of ∼4 million gene pairs in human HAP1 cells maps ∼89,000 genetic interactions, revealing a hierarchical network that links genes to complexes, pathways, and cellular processes and elucidates the genes underlying cancer cell genetic dependencies.

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